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<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a chemical [CAA] and a gene or protein [cathepsin B]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. - Abstract of the Paper: Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients. Which sentences in the title and abstract that mention a chemical [CAA]? [/INST] 1. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. 3. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. 4. Caspase activation by cisplatin was inhibited by CAA. 5. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. 6. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. 7. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. 8. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. 9. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. 10. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. 11. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers.</s>\ <s>[INST] Which sentences in the title and abstract that mention a gene or protein [cathepsin B]? [/INST] 1. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B.</s>\ <s>[INST] Which sentences mention both the entities a chemical [CAA] and a gene or protein [cathepsin B]? [/INST] 1. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the chemical [CAA] and the gene or protein [cathepsin B]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'] Option Descriptions:'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a chemical [CAA] and a gene or protein [caspase-8]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. - Abstract of the Paper: Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients. Which sentences in the title and abstract that mention a chemical [CAA]? [/INST] 1. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. 3. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. 4. Caspase activation by cisplatin was inhibited by CAA. 5. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. 6. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. 7. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. 8. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. 9. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. 10. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. 11. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers.</s>\ <s>[INST] Which sentences in the title and abstract that mention a gene or protein [caspase-8]? [/INST] 1. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B.</s>\ <s>[INST] Which sentences mention both the entities a chemical [CAA] and a gene or protein [caspase-8]? [/INST] 1. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the chemical [CAA] and the gene or protein [caspase-8]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'] Option Descriptions:'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a chemical [CAA] and a gene or protein [caspase-3]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. - Abstract of the Paper: Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients. Which sentences in the title and abstract that mention a chemical [CAA]? [/INST] 1. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. 3. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. 4. Caspase activation by cisplatin was inhibited by CAA. 5. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. 6. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. 7. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. 8. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. 9. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. 10. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. 11. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers.</s>\ <s>[INST] Which sentences in the title and abstract that mention a gene or protein [caspase-3]? [/INST] 1. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. 2. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B.</s>\ <s>[INST] Which sentences mention both the entities a chemical [CAA] and a gene or protein [caspase-3]? [/INST] 1. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. 2. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the chemical [CAA] and the gene or protein [caspase-3]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'] Option Descriptions:'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a chemical [CAA] and a disease [necrosis]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. - Abstract of the Paper: Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients. Which sentences in the title and abstract that mention a chemical [CAA]? [/INST] 1. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. 3. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. 4. Caspase activation by cisplatin was inhibited by CAA. 5. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. 6. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. 7. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. 8. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. 9. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. 10. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. 11. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [necrosis]? [/INST] 1. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. 2. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers.</s>\ <s>[INST] Which sentences mention both the entities a chemical [CAA] and a disease [necrosis]? [/INST] 1. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. 2. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the chemical [CAA] and the disease [necrosis]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a chemical [CAA] and a chemical [thiols]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. - Abstract of the Paper: Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients. Which sentences in the title and abstract that mention a chemical [CAA]? [/INST] 1. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. 3. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. 4. Caspase activation by cisplatin was inhibited by CAA. 5. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. 6. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. 7. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. 8. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. 9. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. 10. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. 11. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers.</s>\ <s>[INST] Which sentences in the title and abstract that mention a chemical [thiols]? [/INST] 1. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. 3. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. 4. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. 5. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. 6. Free thiols were measured by the method of Ellman.</s>\ <s>[INST] Which sentences mention both the entities a chemical [CAA] and a chemical [thiols]? [/INST] 1. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. 3. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. 4. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. 5. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the chemical [CAA] and the chemical [thiols]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association'] Option Descriptions:'Positive_Correlation' indicates that Chemical A increases the effectiveness of Chemical B. This includes making Chemical B more sensitive, enhancing its ability to treat or induce a disease, or boosting its role in gene activation. 'Negative_Correlation' means that Chemical A reduces the effectiveness and impact of Chemical B. This includes decreasing Chemical B's sensitivity, reducing its ability to treat or induce a disease, diminishing its side effects, and lowering the gene activation it causes. 'Drug_Interaction' is when two different drugs or chemicals affect each other's action in the body, happening when they are used at the same time. 'Cotreatment' means that two different drugs or chemicals are used in combination therapy. 'Conversion' means that one chemical changes into another chemical. 'Comparison' means that two different drugs or chemicals have some differences and similarities in their effects. 'Association' refers to the relation between two chemicals that do not fit into any specific, predefined categories of relations. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a chemical [Chloroacetaldehyde] and a disease [nephropathy]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. - Abstract of the Paper: Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients. Which sentences in the title and abstract that mention a chemical [Chloroacetaldehyde]? [/INST] 1. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. 3. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. 4. Caspase activation by cisplatin was inhibited by CAA. 5. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. 6. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. 7. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. 8. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. 9. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. 10. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. 11. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [nephropathy]? [/INST] 1. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. 3. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients.</s>\ <s>[INST] Which sentences mention both the entities a chemical [Chloroacetaldehyde] and a disease [nephropathy]? [/INST] 1. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the chemical [Chloroacetaldehyde] and the disease [nephropathy]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [nephropathy] and a chemical [ifosfamide]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. - Abstract of the Paper: Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients. Which sentences in the title and abstract that mention a disease [nephropathy]? [/INST] 1. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. 3. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients.</s>\ <s>[INST] Which sentences in the title and abstract that mention a chemical [ifosfamide]? [/INST] 1. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. 3. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients.</s>\ <s>[INST] Which sentences mention both the entities a disease [nephropathy] and a chemical [ifosfamide]? [/INST] 1. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. 3. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [nephropathy] and the chemical [ifosfamide]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [tumor] and a chemical [IFO]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. - Abstract of the Paper: Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients. Which sentences in the title and abstract that mention a disease [tumor]? [/INST] 1. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO.</s>\ <s>[INST] Which sentences in the title and abstract that mention a chemical [IFO]? [/INST] 1. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. 2. Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. 3. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients.</s>\ <s>[INST] Which sentences mention both the entities a disease [tumor] and a chemical [IFO]? [/INST] 1. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [tumor] and the chemical [IFO]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a chemical [phenylephrine] and a disease [hypertensive]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Delayed institution of hypertension during focal cerebral ischemia: effect on brain edema. - Abstract of the Paper: The effect of induced hypertension instituted after a 2-h delay following middle cerebral artery occlusion (MCAO) on brain edema formation and histochemical injury was studied. Under isoflurane anesthesia, the MCA of 14 spontaneously hypertensive rats was occluded. In the control group (n = 7), the mean arterial pressure (MAP) was not manipulated. In the hypertensive group (n = 7), the MAP was elevated by 25-30 mm Hg beginning 2 h after MCAO. Four hours after MCAO, the rats were killed and the brains harvested. The brains were sectioned along coronal planes spanning the distribution of ischemia produced by MCAO. Specific gravity (SG) was determined in the subcortex and in two sites in the cortex (core and periphery of the ischemic territory). The extent of neuronal injury was determined by 2,3,5-triphenyltetrazolium staining. In the ischemic core, there was no difference in SG in the subcortex and cortex in the two groups. In the periphery of the ischemic territory, SG in the cortex was greater (less edema accumulation) in the hypertensive group (1.041 +/- 0.001 vs 1.039 +/- 0.001, P less than 0.05). The area of histochemical injury (as a percent of the cross-sectional area of the hemisphere) was less in the hypertensive group (33 +/- 3% vs 21 +/- 2%, P less than 0.05). The data indicate that phenylephrine-induced hypertension instituted 2 h after MCAO does not aggravate edema in the ischemic core, that it improves edema in the periphery of the ischemic territory, and that it reduces the area of histochemical neuronal dysfunction. Which sentences in the title and abstract that mention a chemical [phenylephrine]? [/INST] 1. The data indicate that phenylephrine-induced hypertension instituted 2 h after MCAO does not aggravate edema in the ischemic core, that it improves edema in the periphery of the ischemic territory, and that it reduces the area of histochemical neuronal dysfunction.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [hypertensive]? [/INST] 1. The area of histochemical injury (as a percent of the cross-sectional area of the hemisphere) was less in the hypertensive group (33 +/- 3% vs 21 +/- 2%, P less than 0.05). 2. Delayed institution of hypertension during focal cerebral ischemia: effect on brain edema. 3. The data indicate that phenylephrine-induced hypertension instituted 2 h after MCAO does not aggravate edema in the ischemic core, that it improves edema in the periphery of the ischemic territory, and that it reduces the area of histochemical neuronal dysfunction. 4. The effect of induced hypertension instituted after a 2-h delay following middle cerebral artery occlusion (MCAO) on brain edema formation and histochemical injury was studied. 5. In the hypertensive group (n = 7), the MAP was elevated by 25-30 mm Hg beginning 2 h after MCAO. 6. Under isoflurane anesthesia, the MCA of 14 spontaneously hypertensive rats was occluded. 7. In the periphery of the ischemic territory, SG in the cortex was greater (less edema accumulation) in the hypertensive group (1.041 +/- 0.001 vs 1.039 +/- 0.001, P less than 0.05).</s>\ <s>[INST] Which sentences mention both the entities a chemical [phenylephrine] and a disease [hypertensive]? [/INST] 1. The data indicate that phenylephrine-induced hypertension instituted 2 h after MCAO does not aggravate edema in the ischemic core, that it improves edema in the periphery of the ischemic territory, and that it reduces the area of histochemical neuronal dysfunction.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the chemical [phenylephrine] and the disease [hypertensive]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [PEMT] and a disease [NASH]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. - Abstract of the Paper: BACKGROUND/AIMS: The genetic predisposition on the development of nonalcoholic steatohepatitis (NASH) has been poorly understood. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine. The aim of this study was to investigate whether the carriers of Val175Met variant impaired in PEMT activity are more susceptible to NASH. METHODS: Blood samples of 107 patients with biopsy-proven NASH and of 150 healthy volunteers were analyzed by the polymerase chain reaction (PCR) and restriction fragment length polymorphism. RESULTS: Val175Met variant allele of the PEMT gene was significantly more frequent in NASH patients than in healthy volunteers (p<0.001), and carriers of Val175Met variant were significantly more frequent in NASH patients than in healthy volunteers (p<0.01). Among NASH patients, body mass index was significantly lower (p<0.05), and non-obese patients were significantly more frequent (p<0.001) in carriers of Val175Met variant than in homozygotes of wild type PEMT. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. Which sentences in the title and abstract that mention a gene or protein [PEMT]? [/INST] 1. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine. 2. RESULTS: Val175Met variant allele of the PEMT gene was significantly more frequent in NASH patients than in healthy volunteers (p<0.001), and carriers of Val175Met variant were significantly more frequent in NASH patients than in healthy volunteers (p<0.01). 3. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. 4. Among NASH patients, body mass index was significantly lower (p<0.05), and non-obese patients were significantly more frequent (p<0.001) in carriers of Val175Met variant than in homozygotes of wild type PEMT. 5. The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. 6. The aim of this study was to investigate whether the carriers of Val175Met variant impaired in PEMT activity are more susceptible to NASH.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [NASH]? [/INST] 1. RESULTS: Val175Met variant allele of the PEMT gene was significantly more frequent in NASH patients than in healthy volunteers (p<0.001), and carriers of Val175Met variant were significantly more frequent in NASH patients than in healthy volunteers (p<0.01). 2. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. 3. METHODS: Blood samples of 107 patients with biopsy-proven NASH and of 150 healthy volunteers were analyzed by the polymerase chain reaction (PCR) and restriction fragment length polymorphism. 4. Among NASH patients, body mass index was significantly lower (p<0.05), and non-obese patients were significantly more frequent (p<0.001) in carriers of Val175Met variant than in homozygotes of wild type PEMT. 5. BACKGROUND/AIMS: The genetic predisposition on the development of nonalcoholic steatohepatitis (NASH) has been poorly understood. 6. The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. 7. The aim of this study was to investigate whether the carriers of Val175Met variant impaired in PEMT activity are more susceptible to NASH.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [PEMT] and a disease [NASH]? [/INST] 1. RESULTS: Val175Met variant allele of the PEMT gene was significantly more frequent in NASH patients than in healthy volunteers (p<0.001), and carriers of Val175Met variant were significantly more frequent in NASH patients than in healthy volunteers (p<0.01). 2. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. 3. Among NASH patients, body mass index was significantly lower (p<0.05), and non-obese patients were significantly more frequent (p<0.001) in carriers of Val175Met variant than in homozygotes of wild type PEMT. 4. The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. 5. The aim of this study was to investigate whether the carriers of Val175Met variant impaired in PEMT activity are more susceptible to NASH.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [PEMT] and the disease [NASH]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a chemical [phosphatidylethanolamine] and a chemical [phosphatidylcholine]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. - Abstract of the Paper: BACKGROUND/AIMS: The genetic predisposition on the development of nonalcoholic steatohepatitis (NASH) has been poorly understood. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine. The aim of this study was to investigate whether the carriers of Val175Met variant impaired in PEMT activity are more susceptible to NASH. METHODS: Blood samples of 107 patients with biopsy-proven NASH and of 150 healthy volunteers were analyzed by the polymerase chain reaction (PCR) and restriction fragment length polymorphism. RESULTS: Val175Met variant allele of the PEMT gene was significantly more frequent in NASH patients than in healthy volunteers (p<0.001), and carriers of Val175Met variant were significantly more frequent in NASH patients than in healthy volunteers (p<0.01). Among NASH patients, body mass index was significantly lower (p<0.05), and non-obese patients were significantly more frequent (p<0.001) in carriers of Val175Met variant than in homozygotes of wild type PEMT. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. Which sentences in the title and abstract that mention a chemical [phosphatidylethanolamine]? [/INST] 1. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine.</s>\ <s>[INST] Which sentences in the title and abstract that mention a chemical [phosphatidylcholine]? [/INST] 1. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine.</s>\ <s>[INST] Which sentences mention both the entities a chemical [phosphatidylethanolamine] and a chemical [phosphatidylcholine]? [/INST] 1. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the chemical [phosphatidylethanolamine] and the chemical [phosphatidylcholine]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association'] Option Descriptions:'Positive_Correlation' indicates that Chemical A increases the effectiveness of Chemical B. This includes making Chemical B more sensitive, enhancing its ability to treat or induce a disease, or boosting its role in gene activation. 'Negative_Correlation' means that Chemical A reduces the effectiveness and impact of Chemical B. This includes decreasing Chemical B's sensitivity, reducing its ability to treat or induce a disease, diminishing its side effects, and lowering the gene activation it causes. 'Drug_Interaction' is when two different drugs or chemicals affect each other's action in the body, happening when they are used at the same time. 'Cotreatment' means that two different drugs or chemicals are used in combination therapy. 'Conversion' means that one chemical changes into another chemical. 'Comparison' means that two different drugs or chemicals have some differences and similarities in their effects. 'Association' refers to the relation between two chemicals that do not fit into any specific, predefined categories of relations. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Conversion</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [Val175Met] and a chemical [phosphatidylcholine]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. - Abstract of the Paper: BACKGROUND/AIMS: The genetic predisposition on the development of nonalcoholic steatohepatitis (NASH) has been poorly understood. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine. The aim of this study was to investigate whether the carriers of Val175Met variant impaired in PEMT activity are more susceptible to NASH. METHODS: Blood samples of 107 patients with biopsy-proven NASH and of 150 healthy volunteers were analyzed by the polymerase chain reaction (PCR) and restriction fragment length polymorphism. RESULTS: Val175Met variant allele of the PEMT gene was significantly more frequent in NASH patients than in healthy volunteers (p<0.001), and carriers of Val175Met variant were significantly more frequent in NASH patients than in healthy volunteers (p<0.01). Among NASH patients, body mass index was significantly lower (p<0.05), and non-obese patients were significantly more frequent (p<0.001) in carriers of Val175Met variant than in homozygotes of wild type PEMT. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. Which sentences in the title and abstract that mention a variant [Val175Met]? [/INST] 1. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine. 2. RESULTS: Val175Met variant allele of the PEMT gene was significantly more frequent in NASH patients than in healthy volunteers (p<0.001), and carriers of Val175Met variant were significantly more frequent in NASH patients than in healthy volunteers (p<0.01). 3. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. 4. Among NASH patients, body mass index was significantly lower (p<0.05), and non-obese patients were significantly more frequent (p<0.001) in carriers of Val175Met variant than in homozygotes of wild type PEMT. 5. The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. 6. The aim of this study was to investigate whether the carriers of Val175Met variant impaired in PEMT activity are more susceptible to NASH.</s>\ <s>[INST] Which sentences in the title and abstract that mention a chemical [phosphatidylcholine]? [/INST] 1. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine.</s>\ <s>[INST] Which sentences mention both the entities a variant [Val175Met] and a chemical [phosphatidylcholine]? [/INST] 1. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [Val175Met] and the chemical [phosphatidylcholine]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' suggests a mutual reinforcement between genetic variations and chemicals. This includes the chemical causing increased gene expression because of the variant, the variant increasing the body's sensitivity to the chemical, the variant causing a stronger reaction to the chemical, or any other type of positive relation between the variant and the chemical. 'Negative_Correlation' means a gene variant weakens the effect of a chemical. Thisinclude when the variant causes less gene activity due to the chemical, makes the body less responsive to the chemical, creates resistance to the chemical, or shows any decrease in interaction between the gene and the chemical. 'Association' indicates that the relation between a chemical and gene variations cannot be clearly defined as either positive or negative correlation. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [Val175Met] and a chemical [phosphatidylethanolamine]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. - Abstract of the Paper: BACKGROUND/AIMS: The genetic predisposition on the development of nonalcoholic steatohepatitis (NASH) has been poorly understood. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine. The aim of this study was to investigate whether the carriers of Val175Met variant impaired in PEMT activity are more susceptible to NASH. METHODS: Blood samples of 107 patients with biopsy-proven NASH and of 150 healthy volunteers were analyzed by the polymerase chain reaction (PCR) and restriction fragment length polymorphism. RESULTS: Val175Met variant allele of the PEMT gene was significantly more frequent in NASH patients than in healthy volunteers (p<0.001), and carriers of Val175Met variant were significantly more frequent in NASH patients than in healthy volunteers (p<0.01). Among NASH patients, body mass index was significantly lower (p<0.05), and non-obese patients were significantly more frequent (p<0.001) in carriers of Val175Met variant than in homozygotes of wild type PEMT. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. Which sentences in the title and abstract that mention a variant [Val175Met]? [/INST] 1. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine. 2. RESULTS: Val175Met variant allele of the PEMT gene was significantly more frequent in NASH patients than in healthy volunteers (p<0.001), and carriers of Val175Met variant were significantly more frequent in NASH patients than in healthy volunteers (p<0.01). 3. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. 4. Among NASH patients, body mass index was significantly lower (p<0.05), and non-obese patients were significantly more frequent (p<0.001) in carriers of Val175Met variant than in homozygotes of wild type PEMT. 5. The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. 6. The aim of this study was to investigate whether the carriers of Val175Met variant impaired in PEMT activity are more susceptible to NASH.</s>\ <s>[INST] Which sentences in the title and abstract that mention a chemical [phosphatidylethanolamine]? [/INST] 1. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine.</s>\ <s>[INST] Which sentences mention both the entities a variant [Val175Met] and a chemical [phosphatidylethanolamine]? [/INST] 1. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [Val175Met] and the chemical [phosphatidylethanolamine]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' suggests a mutual reinforcement between genetic variations and chemicals. This includes the chemical causing increased gene expression because of the variant, the variant increasing the body's sensitivity to the chemical, the variant causing a stronger reaction to the chemical, or any other type of positive relation between the variant and the chemical. 'Negative_Correlation' means a gene variant weakens the effect of a chemical. Thisinclude when the variant causes less gene activity due to the chemical, makes the body less responsive to the chemical, creates resistance to the chemical, or shows any decrease in interaction between the gene and the chemical. 'Association' indicates that the relation between a chemical and gene variations cannot be clearly defined as either positive or negative correlation. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [V175M] and a disease [NASH]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. - Abstract of the Paper: BACKGROUND/AIMS: The genetic predisposition on the development of nonalcoholic steatohepatitis (NASH) has been poorly understood. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine. The aim of this study was to investigate whether the carriers of Val175Met variant impaired in PEMT activity are more susceptible to NASH. METHODS: Blood samples of 107 patients with biopsy-proven NASH and of 150 healthy volunteers were analyzed by the polymerase chain reaction (PCR) and restriction fragment length polymorphism. RESULTS: Val175Met variant allele of the PEMT gene was significantly more frequent in NASH patients than in healthy volunteers (p<0.001), and carriers of Val175Met variant were significantly more frequent in NASH patients than in healthy volunteers (p<0.01). Among NASH patients, body mass index was significantly lower (p<0.05), and non-obese patients were significantly more frequent (p<0.001) in carriers of Val175Met variant than in homozygotes of wild type PEMT. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. Which sentences in the title and abstract that mention a variant [V175M]? [/INST] 1. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine. 2. RESULTS: Val175Met variant allele of the PEMT gene was significantly more frequent in NASH patients than in healthy volunteers (p<0.001), and carriers of Val175Met variant were significantly more frequent in NASH patients than in healthy volunteers (p<0.01). 3. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. 4. Among NASH patients, body mass index was significantly lower (p<0.05), and non-obese patients were significantly more frequent (p<0.001) in carriers of Val175Met variant than in homozygotes of wild type PEMT. 5. The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. 6. The aim of this study was to investigate whether the carriers of Val175Met variant impaired in PEMT activity are more susceptible to NASH.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [NASH]? [/INST] 1. RESULTS: Val175Met variant allele of the PEMT gene was significantly more frequent in NASH patients than in healthy volunteers (p<0.001), and carriers of Val175Met variant were significantly more frequent in NASH patients than in healthy volunteers (p<0.01). 2. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. 3. METHODS: Blood samples of 107 patients with biopsy-proven NASH and of 150 healthy volunteers were analyzed by the polymerase chain reaction (PCR) and restriction fragment length polymorphism. 4. Among NASH patients, body mass index was significantly lower (p<0.05), and non-obese patients were significantly more frequent (p<0.001) in carriers of Val175Met variant than in homozygotes of wild type PEMT. 5. BACKGROUND/AIMS: The genetic predisposition on the development of nonalcoholic steatohepatitis (NASH) has been poorly understood. 6. The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. 7. The aim of this study was to investigate whether the carriers of Val175Met variant impaired in PEMT activity are more susceptible to NASH.</s>\ <s>[INST] Which sentences mention both the entities a variant [V175M] and a disease [NASH]? [/INST] 1. RESULTS: Val175Met variant allele of the PEMT gene was significantly more frequent in NASH patients than in healthy volunteers (p<0.001), and carriers of Val175Met variant were significantly more frequent in NASH patients than in healthy volunteers (p<0.01). 2. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. 3. Among NASH patients, body mass index was significantly lower (p<0.05), and non-obese patients were significantly more frequent (p<0.001) in carriers of Val175Met variant than in homozygotes of wild type PEMT. 4. The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. 5. The aim of this study was to investigate whether the carriers of Val175Met variant impaired in PEMT activity are more susceptible to NASH.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [V175M] and the disease [NASH]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [rs1155974] and a disease [adiposity]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a variant [rs1155974]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [adiposity]? [/INST] 1. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). 4. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Which sentences mention both the entities a variant [rs1155974] and a disease [adiposity]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [rs1155974] and the disease [adiposity]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [rs2073162] and a disease [T2D]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a variant [rs2073162]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 2. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [T2D]? [/INST] 1. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 4. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D).</s>\ <s>[INST] Which sentences mention both the entities a variant [rs2073162] and a disease [T2D]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 2. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [rs2073162] and the disease [T2D]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [rs2073162] and a disease [adiposity]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a variant [rs2073162]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 2. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [adiposity]? [/INST] 1. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). 4. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Which sentences mention both the entities a variant [rs2073162] and a disease [adiposity]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [rs2073162] and the disease [adiposity]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [rs1155794] and a disease [T2D]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a variant [rs1155794]? [/INST] 1. Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [T2D]? [/INST] 1. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 4. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D).</s>\ <s>[INST] Which sentences mention both the entities a variant [rs1155794] and a disease [T2D]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [rs1155794] and the disease [T2D]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [T2D] and a variant [rs1155974]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a disease [T2D]? [/INST] 1. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 4. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D).</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [rs1155974]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T.</s>\ <s>[INST] Which sentences mention both the entities a disease [T2D] and a variant [rs1155974]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [T2D] and the variant [rs1155974]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [type 2 diabetes] and a chemical [glucose]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a disease [type 2 diabetes]? [/INST] 1. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 4. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D).</s>\ <s>[INST] Which sentences in the title and abstract that mention a chemical [glucose]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 2. Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. 3. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 4. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D).</s>\ <s>[INST] Which sentences mention both the entities a disease [type 2 diabetes] and a chemical [glucose]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D).</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [type 2 diabetes] and the chemical [glucose]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [rs2073163] and a disease [T2D]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a variant [rs2073163]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 2. Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [T2D]? [/INST] 1. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 4. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D).</s>\ <s>[INST] Which sentences mention both the entities a variant [rs2073163] and a disease [T2D]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [rs2073163] and the disease [T2D]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [rs2073163] and a disease [adiposity]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a variant [rs2073163]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 2. Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [adiposity]? [/INST] 1. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). 4. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Which sentences mention both the entities a variant [rs2073163] and a disease [adiposity]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [rs2073163] and the disease [adiposity]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a chemical [glucose] and a variant [rs1155794]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a chemical [glucose]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 2. Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. 3. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 4. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D).</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [rs1155794]? [/INST] 1. Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up.</s>\ <s>[INST] Which sentences mention both the entities a chemical [glucose] and a variant [rs1155794]? [/INST] 1. Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the chemical [glucose] and the variant [rs1155794]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' suggests a mutual reinforcement between genetic variations and chemicals. This includes the chemical causing increased gene expression because of the variant, the variant increasing the body's sensitivity to the chemical, the variant causing a stronger reaction to the chemical, or any other type of positive relation between the variant and the chemical. 'Negative_Correlation' means a gene variant weakens the effect of a chemical. Thisinclude when the variant causes less gene activity due to the chemical, makes the body less responsive to the chemical, creates resistance to the chemical, or shows any decrease in interaction between the gene and the chemical. 'Association' indicates that the relation between a chemical and gene variations cannot be clearly defined as either positive or negative correlation. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a chemical [glucose] and a variant [rs2073163]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a chemical [glucose]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 2. Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. 3. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 4. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D).</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [rs2073163]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 2. Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up.</s>\ <s>[INST] Which sentences mention both the entities a chemical [glucose] and a variant [rs2073163]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 2. Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the chemical [glucose] and the variant [rs2073163]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' suggests a mutual reinforcement between genetic variations and chemicals. This includes the chemical causing increased gene expression because of the variant, the variant increasing the body's sensitivity to the chemical, the variant causing a stronger reaction to the chemical, or any other type of positive relation between the variant and the chemical. 'Negative_Correlation' means a gene variant weakens the effect of a chemical. Thisinclude when the variant causes less gene activity due to the chemical, makes the body less responsive to the chemical, creates resistance to the chemical, or shows any decrease in interaction between the gene and the chemical. 'Association' indicates that the relation between a chemical and gene variations cannot be clearly defined as either positive or negative correlation. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [adiposity] and a variant [rs11798018]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a disease [adiposity]? [/INST] 1. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). 4. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [rs11798018]? [/INST] 1. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018).</s>\ <s>[INST] Which sentences mention both the entities a disease [adiposity] and a variant [rs11798018]? [/INST] 1. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018).</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [adiposity] and the variant [rs11798018]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [adiposity] and a variant [rs4828037]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a disease [adiposity]? [/INST] 1. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). 4. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [rs4828037]? [/INST] 1. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018).</s>\ <s>[INST] Which sentences mention both the entities a disease [adiposity] and a variant [rs4828037]? [/INST] 1. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018).</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [adiposity] and the variant [rs4828037]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [adiposity] and a variant [rs5966709]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a disease [adiposity]? [/INST] 1. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). 4. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [rs5966709]? [/INST] 1. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018).</s>\ <s>[INST] Which sentences mention both the entities a disease [adiposity] and a variant [rs5966709]? [/INST] 1. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018).</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [adiposity] and the variant [rs5966709]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [TNMD] and a disease [type 2 diabetes]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a gene or protein [TNMD]? [/INST] 1. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 2. One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. 3. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [type 2 diabetes]? [/INST] 1. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 4. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D).</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [TNMD] and a disease [type 2 diabetes]? [/INST] 1. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [TNMD] and the disease [type 2 diabetes]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [TNMD] and a chemical [glucose]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a gene or protein [TNMD]? [/INST] 1. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 2. One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. 3. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Which sentences in the title and abstract that mention a chemical [glucose]? [/INST] 1. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. 2. Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. 3. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 4. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D).</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [TNMD] and a chemical [glucose]? [/INST] 1. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [TNMD] and the chemical [glucose]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'] Option Descriptions:'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [Tenomodulin] and a disease [diabetes]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a gene or protein [Tenomodulin]? [/INST] 1. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 2. One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. 3. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [diabetes]? [/INST] 1. Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). 2. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [Tenomodulin] and a disease [diabetes]? [/INST] 1. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [Tenomodulin] and the disease [diabetes]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [Tenomodulin] and a disease [obesity]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. - Abstract of the Paper: We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). Seven single nucleotide polymorphisms from two different haploblocks were genotyped from 507 participants of the Finnish Diabetes Prevention Study (DPS). Sex-specific genotype effects were observed. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). Markers rs2073163 and rs1155794 from haploblock 2 were associated with 2-hour plasma glucose levels in men during the 3-year follow-up. The same two markers together with rs2073162 associated with the conversion of IGT to T2D in men. The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. Which sentences in the title and abstract that mention a gene or protein [Tenomodulin]? [/INST] 1. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 2. One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. 3. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [obesity]? [/INST] 1. Our aim was to study the associations of individual single nucleotide polymorphisms and haplotypes with adiposity, glucose metabolism, and the risk of type 2 diabetes (T2D). 2. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 3. Three markers of haploblock 1 were associated with features of adiposity in women (rs5966709, rs4828037) and men (rs11798018). 4. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [Tenomodulin] and a disease [obesity]? [/INST] 1. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men. 2. Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [Tenomodulin] and the disease [obesity]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [TLR2] and a disease [inflammatory bowel disease]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease. - Abstract of the Paper: BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of tolerance to intestinal bacteria that underlies Crohn's disease, resulting in an exaggerated adaptive immune response to these bacteria. It was hypothesised that the development of antimicrobial antibodies is influenced by the presence of genetic variants in pattern recognition receptor genes. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. RESULTS: When compared with Crohn's disease patients without CARD15 mutations, the presence of at least one CARD15 variant in Crohn's disease patients more frequently led to gASCA positivity (66.1% versus 51.5%, p < 0.0001) and ALCA positivity (43.3% versus 34.9%, p = 0.018) and higher gASCA titers (85.7 versus 51.8 ELISA units, p < 0.0001), independent of ileal involvement. A gene dosage effect, with increasing gASCA and ALCA positivity for patients carrying none, one and two CARD15 variants, respectively, was seen for both markers. Similarly, Crohn's disease patients carrying NOD1/CARD4 indel had a higher prevalence of gASCA antibodies than wild-type patients (63.8% versus 55.2%, p = 0.014), also with a gene dosage effect. An opposite effect was observed for the TLR4 D299G and TLR2 P631H variants, with a lower prevalence of ACCA antibodies (23.4% versus 35%, p = 0.013) and Omp antibodies (20.5% versus 34.6%, p = 0.009), respectively. CONCLUSION: Variants in innate immune receptor genes were found to influence antibody formation against microbial epitopes. In this respect, it is intriguing that an opposite effect of CARD15 and TLR4 variants was observed. These findings may contribute to an understanding of the aetiology of the seroreactivity observed in IBD. Which sentences in the title and abstract that mention a gene or protein [TLR2]? [/INST] 1. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). 2. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. 3. An opposite effect was observed for the TLR4 D299G and TLR2 P631H variants, with a lower prevalence of ACCA antibodies (23.4% versus 35%, p = 0.013) and Omp antibodies (20.5% versus 34.6%, p = 0.009), respectively.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [inflammatory bowel disease]? [/INST] 1. These findings may contribute to an understanding of the aetiology of the seroreactivity observed in IBD. 2. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). 3. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. 4. Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [TLR2] and a disease [inflammatory bowel disease]? [/INST] 1. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). 2. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [TLR2] and the disease [inflammatory bowel disease]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [TLR4] and a disease [IBD]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease. - Abstract of the Paper: BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of tolerance to intestinal bacteria that underlies Crohn's disease, resulting in an exaggerated adaptive immune response to these bacteria. It was hypothesised that the development of antimicrobial antibodies is influenced by the presence of genetic variants in pattern recognition receptor genes. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. RESULTS: When compared with Crohn's disease patients without CARD15 mutations, the presence of at least one CARD15 variant in Crohn's disease patients more frequently led to gASCA positivity (66.1% versus 51.5%, p < 0.0001) and ALCA positivity (43.3% versus 34.9%, p = 0.018) and higher gASCA titers (85.7 versus 51.8 ELISA units, p < 0.0001), independent of ileal involvement. A gene dosage effect, with increasing gASCA and ALCA positivity for patients carrying none, one and two CARD15 variants, respectively, was seen for both markers. Similarly, Crohn's disease patients carrying NOD1/CARD4 indel had a higher prevalence of gASCA antibodies than wild-type patients (63.8% versus 55.2%, p = 0.014), also with a gene dosage effect. An opposite effect was observed for the TLR4 D299G and TLR2 P631H variants, with a lower prevalence of ACCA antibodies (23.4% versus 35%, p = 0.013) and Omp antibodies (20.5% versus 34.6%, p = 0.009), respectively. CONCLUSION: Variants in innate immune receptor genes were found to influence antibody formation against microbial epitopes. In this respect, it is intriguing that an opposite effect of CARD15 and TLR4 variants was observed. These findings may contribute to an understanding of the aetiology of the seroreactivity observed in IBD. Which sentences in the title and abstract that mention a gene or protein [TLR4]? [/INST] 1. In this respect, it is intriguing that an opposite effect of CARD15 and TLR4 variants was observed. 2. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). 3. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. 4. An opposite effect was observed for the TLR4 D299G and TLR2 P631H variants, with a lower prevalence of ACCA antibodies (23.4% versus 35%, p = 0.013) and Omp antibodies (20.5% versus 34.6%, p = 0.009), respectively.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [IBD]? [/INST] 1. These findings may contribute to an understanding of the aetiology of the seroreactivity observed in IBD. 2. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). 3. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. 4. Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [TLR4] and a disease [IBD]? [/INST] 1. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). 2. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [TLR4] and the disease [IBD]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [P631H] and a disease [IBD]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease. - Abstract of the Paper: BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of tolerance to intestinal bacteria that underlies Crohn's disease, resulting in an exaggerated adaptive immune response to these bacteria. It was hypothesised that the development of antimicrobial antibodies is influenced by the presence of genetic variants in pattern recognition receptor genes. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. RESULTS: When compared with Crohn's disease patients without CARD15 mutations, the presence of at least one CARD15 variant in Crohn's disease patients more frequently led to gASCA positivity (66.1% versus 51.5%, p < 0.0001) and ALCA positivity (43.3% versus 34.9%, p = 0.018) and higher gASCA titers (85.7 versus 51.8 ELISA units, p < 0.0001), independent of ileal involvement. A gene dosage effect, with increasing gASCA and ALCA positivity for patients carrying none, one and two CARD15 variants, respectively, was seen for both markers. Similarly, Crohn's disease patients carrying NOD1/CARD4 indel had a higher prevalence of gASCA antibodies than wild-type patients (63.8% versus 55.2%, p = 0.014), also with a gene dosage effect. An opposite effect was observed for the TLR4 D299G and TLR2 P631H variants, with a lower prevalence of ACCA antibodies (23.4% versus 35%, p = 0.013) and Omp antibodies (20.5% versus 34.6%, p = 0.009), respectively. CONCLUSION: Variants in innate immune receptor genes were found to influence antibody formation against microbial epitopes. In this respect, it is intriguing that an opposite effect of CARD15 and TLR4 variants was observed. These findings may contribute to an understanding of the aetiology of the seroreactivity observed in IBD. Which sentences in the title and abstract that mention a variant [P631H]? [/INST] 1. An opposite effect was observed for the TLR4 D299G and TLR2 P631H variants, with a lower prevalence of ACCA antibodies (23.4% versus 35%, p = 0.013) and Omp antibodies (20.5% versus 34.6%, p = 0.009), respectively.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [IBD]? [/INST] 1. These findings may contribute to an understanding of the aetiology of the seroreactivity observed in IBD. 2. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). 3. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. 4. Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease.</s>\ <s>[INST] Which sentences mention both the entities a variant [P631H] and a disease [IBD]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [P631H] and the disease [IBD]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [D299G] and a disease [IBD]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease. - Abstract of the Paper: BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of tolerance to intestinal bacteria that underlies Crohn's disease, resulting in an exaggerated adaptive immune response to these bacteria. It was hypothesised that the development of antimicrobial antibodies is influenced by the presence of genetic variants in pattern recognition receptor genes. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. RESULTS: When compared with Crohn's disease patients without CARD15 mutations, the presence of at least one CARD15 variant in Crohn's disease patients more frequently led to gASCA positivity (66.1% versus 51.5%, p < 0.0001) and ALCA positivity (43.3% versus 34.9%, p = 0.018) and higher gASCA titers (85.7 versus 51.8 ELISA units, p < 0.0001), independent of ileal involvement. A gene dosage effect, with increasing gASCA and ALCA positivity for patients carrying none, one and two CARD15 variants, respectively, was seen for both markers. Similarly, Crohn's disease patients carrying NOD1/CARD4 indel had a higher prevalence of gASCA antibodies than wild-type patients (63.8% versus 55.2%, p = 0.014), also with a gene dosage effect. An opposite effect was observed for the TLR4 D299G and TLR2 P631H variants, with a lower prevalence of ACCA antibodies (23.4% versus 35%, p = 0.013) and Omp antibodies (20.5% versus 34.6%, p = 0.009), respectively. CONCLUSION: Variants in innate immune receptor genes were found to influence antibody formation against microbial epitopes. In this respect, it is intriguing that an opposite effect of CARD15 and TLR4 variants was observed. These findings may contribute to an understanding of the aetiology of the seroreactivity observed in IBD. Which sentences in the title and abstract that mention a variant [D299G]? [/INST] 1. An opposite effect was observed for the TLR4 D299G and TLR2 P631H variants, with a lower prevalence of ACCA antibodies (23.4% versus 35%, p = 0.013) and Omp antibodies (20.5% versus 34.6%, p = 0.009), respectively.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [IBD]? [/INST] 1. These findings may contribute to an understanding of the aetiology of the seroreactivity observed in IBD. 2. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). 3. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. 4. Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease.</s>\ <s>[INST] Which sentences mention both the entities a variant [D299G] and a disease [IBD]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [D299G] and the disease [IBD]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [CARD15] and a disease [IBD]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease. - Abstract of the Paper: BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of tolerance to intestinal bacteria that underlies Crohn's disease, resulting in an exaggerated adaptive immune response to these bacteria. It was hypothesised that the development of antimicrobial antibodies is influenced by the presence of genetic variants in pattern recognition receptor genes. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. RESULTS: When compared with Crohn's disease patients without CARD15 mutations, the presence of at least one CARD15 variant in Crohn's disease patients more frequently led to gASCA positivity (66.1% versus 51.5%, p < 0.0001) and ALCA positivity (43.3% versus 34.9%, p = 0.018) and higher gASCA titers (85.7 versus 51.8 ELISA units, p < 0.0001), independent of ileal involvement. A gene dosage effect, with increasing gASCA and ALCA positivity for patients carrying none, one and two CARD15 variants, respectively, was seen for both markers. Similarly, Crohn's disease patients carrying NOD1/CARD4 indel had a higher prevalence of gASCA antibodies than wild-type patients (63.8% versus 55.2%, p = 0.014), also with a gene dosage effect. An opposite effect was observed for the TLR4 D299G and TLR2 P631H variants, with a lower prevalence of ACCA antibodies (23.4% versus 35%, p = 0.013) and Omp antibodies (20.5% versus 34.6%, p = 0.009), respectively. CONCLUSION: Variants in innate immune receptor genes were found to influence antibody formation against microbial epitopes. In this respect, it is intriguing that an opposite effect of CARD15 and TLR4 variants was observed. These findings may contribute to an understanding of the aetiology of the seroreactivity observed in IBD. Which sentences in the title and abstract that mention a gene or protein [CARD15]? [/INST] 1. A gene dosage effect, with increasing gASCA and ALCA positivity for patients carrying none, one and two CARD15 variants, respectively, was seen for both markers. 2. In this respect, it is intriguing that an opposite effect of CARD15 and TLR4 variants was observed. 3. RESULTS: When compared with Crohn's disease patients without CARD15 mutations, the presence of at least one CARD15 variant in Crohn's disease patients more frequently led to gASCA positivity (66.1% versus 51.5%, p < 0.0001) and ALCA positivity (43.3% versus 34.9%, p = 0.018) and higher gASCA titers (85.7 versus 51.8 ELISA units, p < 0.0001), independent of ileal involvement. 4. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. 5. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD).</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [IBD]? [/INST] 1. These findings may contribute to an understanding of the aetiology of the seroreactivity observed in IBD. 2. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). 3. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. 4. Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [CARD15] and a disease [IBD]? [/INST] 1. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). 2. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [CARD15] and the disease [IBD]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [Crohn's disease] and a gene or protein [CARD15]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease. - Abstract of the Paper: BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of tolerance to intestinal bacteria that underlies Crohn's disease, resulting in an exaggerated adaptive immune response to these bacteria. It was hypothesised that the development of antimicrobial antibodies is influenced by the presence of genetic variants in pattern recognition receptor genes. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. RESULTS: When compared with Crohn's disease patients without CARD15 mutations, the presence of at least one CARD15 variant in Crohn's disease patients more frequently led to gASCA positivity (66.1% versus 51.5%, p < 0.0001) and ALCA positivity (43.3% versus 34.9%, p = 0.018) and higher gASCA titers (85.7 versus 51.8 ELISA units, p < 0.0001), independent of ileal involvement. A gene dosage effect, with increasing gASCA and ALCA positivity for patients carrying none, one and two CARD15 variants, respectively, was seen for both markers. Similarly, Crohn's disease patients carrying NOD1/CARD4 indel had a higher prevalence of gASCA antibodies than wild-type patients (63.8% versus 55.2%, p = 0.014), also with a gene dosage effect. An opposite effect was observed for the TLR4 D299G and TLR2 P631H variants, with a lower prevalence of ACCA antibodies (23.4% versus 35%, p = 0.013) and Omp antibodies (20.5% versus 34.6%, p = 0.009), respectively. CONCLUSION: Variants in innate immune receptor genes were found to influence antibody formation against microbial epitopes. In this respect, it is intriguing that an opposite effect of CARD15 and TLR4 variants was observed. These findings may contribute to an understanding of the aetiology of the seroreactivity observed in IBD. Which sentences in the title and abstract that mention a disease [Crohn's disease]? [/INST] 1. Similarly, Crohn's disease patients carrying NOD1/CARD4 indel had a higher prevalence of gASCA antibodies than wild-type patients (63.8% versus 55.2%, p = 0.014), also with a gene dosage effect. 2. RESULTS: When compared with Crohn's disease patients without CARD15 mutations, the presence of at least one CARD15 variant in Crohn's disease patients more frequently led to gASCA positivity (66.1% versus 51.5%, p < 0.0001) and ALCA positivity (43.3% versus 34.9%, p = 0.018) and higher gASCA titers (85.7 versus 51.8 ELISA units, p < 0.0001), independent of ileal involvement. 3. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. 4. BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. 5. The development of antibodies reflects a loss of tolerance to intestinal bacteria that underlies Crohn's disease, resulting in an exaggerated adaptive immune response to these bacteria.</s>\ <s>[INST] Which sentences in the title and abstract that mention a gene or protein [CARD15]? [/INST] 1. A gene dosage effect, with increasing gASCA and ALCA positivity for patients carrying none, one and two CARD15 variants, respectively, was seen for both markers. 2. In this respect, it is intriguing that an opposite effect of CARD15 and TLR4 variants was observed. 3. RESULTS: When compared with Crohn's disease patients without CARD15 mutations, the presence of at least one CARD15 variant in Crohn's disease patients more frequently led to gASCA positivity (66.1% versus 51.5%, p < 0.0001) and ALCA positivity (43.3% versus 34.9%, p = 0.018) and higher gASCA titers (85.7 versus 51.8 ELISA units, p < 0.0001), independent of ileal involvement. 4. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. 5. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD).</s>\ <s>[INST] Which sentences mention both the entities a disease [Crohn's disease] and a gene or protein [CARD15]? [/INST] 1. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. 2. RESULTS: When compared with Crohn's disease patients without CARD15 mutations, the presence of at least one CARD15 variant in Crohn's disease patients more frequently led to gASCA positivity (66.1% versus 51.5%, p < 0.0001) and ALCA positivity (43.3% versus 34.9%, p = 0.018) and higher gASCA titers (85.7 versus 51.8 ELISA units, p < 0.0001), independent of ileal involvement.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [Crohn's disease] and the gene or protein [CARD15]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a protein or gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or drug) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [Crohn's disease] and a gene or protein [NOD1]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease. - Abstract of the Paper: BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of tolerance to intestinal bacteria that underlies Crohn's disease, resulting in an exaggerated adaptive immune response to these bacteria. It was hypothesised that the development of antimicrobial antibodies is influenced by the presence of genetic variants in pattern recognition receptor genes. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. RESULTS: When compared with Crohn's disease patients without CARD15 mutations, the presence of at least one CARD15 variant in Crohn's disease patients more frequently led to gASCA positivity (66.1% versus 51.5%, p < 0.0001) and ALCA positivity (43.3% versus 34.9%, p = 0.018) and higher gASCA titers (85.7 versus 51.8 ELISA units, p < 0.0001), independent of ileal involvement. A gene dosage effect, with increasing gASCA and ALCA positivity for patients carrying none, one and two CARD15 variants, respectively, was seen for both markers. Similarly, Crohn's disease patients carrying NOD1/CARD4 indel had a higher prevalence of gASCA antibodies than wild-type patients (63.8% versus 55.2%, p = 0.014), also with a gene dosage effect. An opposite effect was observed for the TLR4 D299G and TLR2 P631H variants, with a lower prevalence of ACCA antibodies (23.4% versus 35%, p = 0.013) and Omp antibodies (20.5% versus 34.6%, p = 0.009), respectively. CONCLUSION: Variants in innate immune receptor genes were found to influence antibody formation against microbial epitopes. In this respect, it is intriguing that an opposite effect of CARD15 and TLR4 variants was observed. These findings may contribute to an understanding of the aetiology of the seroreactivity observed in IBD. Which sentences in the title and abstract that mention a disease [Crohn's disease]? [/INST] 1. Similarly, Crohn's disease patients carrying NOD1/CARD4 indel had a higher prevalence of gASCA antibodies than wild-type patients (63.8% versus 55.2%, p = 0.014), also with a gene dosage effect. 2. RESULTS: When compared with Crohn's disease patients without CARD15 mutations, the presence of at least one CARD15 variant in Crohn's disease patients more frequently led to gASCA positivity (66.1% versus 51.5%, p < 0.0001) and ALCA positivity (43.3% versus 34.9%, p = 0.018) and higher gASCA titers (85.7 versus 51.8 ELISA units, p < 0.0001), independent of ileal involvement. 3. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. 4. BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. 5. The development of antibodies reflects a loss of tolerance to intestinal bacteria that underlies Crohn's disease, resulting in an exaggerated adaptive immune response to these bacteria.</s>\ <s>[INST] Which sentences in the title and abstract that mention a gene or protein [NOD1]? [/INST] 1. Similarly, Crohn's disease patients carrying NOD1/CARD4 indel had a higher prevalence of gASCA antibodies than wild-type patients (63.8% versus 55.2%, p = 0.014), also with a gene dosage effect. 2. The aim of this study was therefore to investigate the influence of mutations in these innate immune receptor genes (nucleotide oligomerisation domain (NOD) 2/caspase recruitment domain (CARD) 15, NOD1/CARD4, TUCAN/CARDINAL/CARD8, Toll-like receptor (TLR) 4, TLR2, TLR1 and TLR6) on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). 3. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6.</s>\ <s>[INST] Which sentences mention both the entities a disease [Crohn's disease] and a gene or protein [NOD1]? [/INST] 1. Similarly, Crohn's disease patients carrying NOD1/CARD4 indel had a higher prevalence of gASCA antibodies than wild-type patients (63.8% versus 55.2%, p = 0.014), also with a gene dosage effect. 2. Materials and METHODS: A cohort of 1163 unrelated patients with IBD (874 Crohn's disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [Crohn's disease] and the gene or protein [NOD1]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a protein or gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or drug) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [FGFR3] and a disease [achondroplasia]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. - Abstract of the Paper: Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7500. In more than 98% of cases, the disease is associated with a G to A or G to C substitution at nucleotide position 1138 (p.G380R) of the fibroblast growth factor receptor 3 (FGFR3) gene. We have developed a sensitive single tube tetra-primer PCR assay to detect both the c.1138G>A and c.1138G>C mutations and can successfully distinguish DNA samples that are homozygous and heterozygous for the c.1138G>A mutation. Titration studies showed that the assay could reliably detect one copy of the mutant allele in a mix of 100 wild-type alleles. The assay has been tested in 50 healthy controls, 3 known patients with achondroplasia, and 5 amniotic fluids suspected of having achondroplasia and for whom we had previously determined the genotypes for the c.1138G>A mutation by PCR-RFLP. We have observed complete concordance between methods. Our tetra-primer PCR assay is sensitive, low-cost, and easy to use method for FGFR3 p.G380R genotyping, which could be used even in "low-tech" laboratories. Which sentences in the title and abstract that mention a gene or protein [FGFR3]? [/INST] 1. In more than 98% of cases, the disease is associated with a G to A or G to C substitution at nucleotide position 1138 (p.G380R) of the fibroblast growth factor receptor 3 (FGFR3) gene. 2. An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. 3. Our tetra-primer PCR assay is sensitive, low-cost, and easy to use method for FGFR3 p.G380R genotyping, which could be used even in "low-tech" laboratories.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [achondroplasia]? [/INST] 1. The assay has been tested in 50 healthy controls, 3 known patients with achondroplasia, and 5 amniotic fluids suspected of having achondroplasia and for whom we had previously determined the genotypes for the c.1138G>A mutation by PCR-RFLP. 2. Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7500. 3. An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [FGFR3] and a disease [achondroplasia]? [/INST] 1. An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [FGFR3] and the disease [achondroplasia]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [G380R] and a disease [achondroplasia]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. - Abstract of the Paper: Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7500. In more than 98% of cases, the disease is associated with a G to A or G to C substitution at nucleotide position 1138 (p.G380R) of the fibroblast growth factor receptor 3 (FGFR3) gene. We have developed a sensitive single tube tetra-primer PCR assay to detect both the c.1138G>A and c.1138G>C mutations and can successfully distinguish DNA samples that are homozygous and heterozygous for the c.1138G>A mutation. Titration studies showed that the assay could reliably detect one copy of the mutant allele in a mix of 100 wild-type alleles. The assay has been tested in 50 healthy controls, 3 known patients with achondroplasia, and 5 amniotic fluids suspected of having achondroplasia and for whom we had previously determined the genotypes for the c.1138G>A mutation by PCR-RFLP. We have observed complete concordance between methods. Our tetra-primer PCR assay is sensitive, low-cost, and easy to use method for FGFR3 p.G380R genotyping, which could be used even in "low-tech" laboratories. Which sentences in the title and abstract that mention a variant [G380R]? [/INST] 1. In more than 98% of cases, the disease is associated with a G to A or G to C substitution at nucleotide position 1138 (p.G380R) of the fibroblast growth factor receptor 3 (FGFR3) gene. 2. We have developed a sensitive single tube tetra-primer PCR assay to detect both the c.1138G>A and c.1138G>C mutations and can successfully distinguish DNA samples that are homozygous and heterozygous for the c.1138G>A mutation. 3. An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. 4. The assay has been tested in 50 healthy controls, 3 known patients with achondroplasia, and 5 amniotic fluids suspected of having achondroplasia and for whom we had previously determined the genotypes for the c.1138G>A mutation by PCR-RFLP. 5. Our tetra-primer PCR assay is sensitive, low-cost, and easy to use method for FGFR3 p.G380R genotyping, which could be used even in "low-tech" laboratories.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [achondroplasia]? [/INST] 1. The assay has been tested in 50 healthy controls, 3 known patients with achondroplasia, and 5 amniotic fluids suspected of having achondroplasia and for whom we had previously determined the genotypes for the c.1138G>A mutation by PCR-RFLP. 2. Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7500. 3. An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.</s>\ <s>[INST] Which sentences mention both the entities a variant [G380R] and a disease [achondroplasia]? [/INST] 1. The assay has been tested in 50 healthy controls, 3 known patients with achondroplasia, and 5 amniotic fluids suspected of having achondroplasia and for whom we had previously determined the genotypes for the c.1138G>A mutation by PCR-RFLP. 2. An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [G380R] and the disease [achondroplasia]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [DMC1] and a disease [infertility]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Genetic investigation of four meiotic genes in women with premature ovarian failure. - Abstract of the Paper: OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). DESIGN: Case-control study. METHODS: Blood sampling, karyotype, hormonal dosage, ultrasound, and ovarian biopsy were carried out on most patients. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls). RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. This mutation resulted in replacement of a non-polar amino acid (proline) with a polar amino acid (serine) at position 29 (P29S). Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon. Which sentences in the title and abstract that mention a gene or protein [DMC1]? [/INST] 1. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). 2. OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. 3. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon. 4. CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [infertility]? [/INST] 1. CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [DMC1] and a disease [infertility]? [/INST] 1. CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [DMC1] and the disease [infertility]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [DMC1] and a disease [premature ovarian failure]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Genetic investigation of four meiotic genes in women with premature ovarian failure. - Abstract of the Paper: OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). DESIGN: Case-control study. METHODS: Blood sampling, karyotype, hormonal dosage, ultrasound, and ovarian biopsy were carried out on most patients. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls). RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. This mutation resulted in replacement of a non-polar amino acid (proline) with a polar amino acid (serine) at position 29 (P29S). Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon. Which sentences in the title and abstract that mention a gene or protein [DMC1]? [/INST] 1. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). 2. OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. 3. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon. 4. CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [premature ovarian failure]? [/INST] 1. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). 2. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls). 3. Genetic investigation of four meiotic genes in women with premature ovarian failure. 4. RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. 5. Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. 6. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). 7. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [DMC1] and a disease [premature ovarian failure]? [/INST] 1. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). 2. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [DMC1] and the disease [premature ovarian failure]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [MSH5] and a disease [POF]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Genetic investigation of four meiotic genes in women with premature ovarian failure. - Abstract of the Paper: OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). DESIGN: Case-control study. METHODS: Blood sampling, karyotype, hormonal dosage, ultrasound, and ovarian biopsy were carried out on most patients. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls). RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. This mutation resulted in replacement of a non-polar amino acid (proline) with a polar amino acid (serine) at position 29 (P29S). Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon. Which sentences in the title and abstract that mention a gene or protein [MSH5]? [/INST] 1. OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. 2. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon. 3. CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function. 4. RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [POF]? [/INST] 1. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). 2. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls). 3. Genetic investigation of four meiotic genes in women with premature ovarian failure. 4. RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. 5. Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. 6. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). 7. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [MSH5] and a disease [POF]? [/INST] 1. RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. 2. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [MSH5] and the disease [POF]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [infertility] and a gene or protein [MSH5]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Genetic investigation of four meiotic genes in women with premature ovarian failure. - Abstract of the Paper: OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). DESIGN: Case-control study. METHODS: Blood sampling, karyotype, hormonal dosage, ultrasound, and ovarian biopsy were carried out on most patients. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls). RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. This mutation resulted in replacement of a non-polar amino acid (proline) with a polar amino acid (serine) at position 29 (P29S). Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon. Which sentences in the title and abstract that mention a disease [infertility]? [/INST] 1. CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function.</s>\ <s>[INST] Which sentences in the title and abstract that mention a gene or protein [MSH5]? [/INST] 1. OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. 2. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon. 3. CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function. 4. RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age.</s>\ <s>[INST] Which sentences mention both the entities a disease [infertility] and a gene or protein [MSH5]? [/INST] 1. CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [infertility] and the gene or protein [MSH5]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a protein or gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or drug) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [infertility] and a variant [M200V]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Genetic investigation of four meiotic genes in women with premature ovarian failure. - Abstract of the Paper: OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). DESIGN: Case-control study. METHODS: Blood sampling, karyotype, hormonal dosage, ultrasound, and ovarian biopsy were carried out on most patients. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls). RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. This mutation resulted in replacement of a non-polar amino acid (proline) with a polar amino acid (serine) at position 29 (P29S). Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon. Which sentences in the title and abstract that mention a disease [infertility]? [/INST] 1. CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [M200V]? [/INST] 1. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V).</s>\ <s>[INST] Which sentences mention both the entities a disease [infertility] and a variant [M200V]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [infertility] and the variant [M200V]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [infertility] and a variant [P29S]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Genetic investigation of four meiotic genes in women with premature ovarian failure. - Abstract of the Paper: OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). DESIGN: Case-control study. METHODS: Blood sampling, karyotype, hormonal dosage, ultrasound, and ovarian biopsy were carried out on most patients. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls). RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. This mutation resulted in replacement of a non-polar amino acid (proline) with a polar amino acid (serine) at position 29 (P29S). Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon. Which sentences in the title and abstract that mention a disease [infertility]? [/INST] 1. CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [P29S]? [/INST] 1. This mutation resulted in replacement of a non-polar amino acid (proline) with a polar amino acid (serine) at position 29 (P29S). 2. RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age.</s>\ <s>[INST] Which sentences mention both the entities a disease [infertility] and a variant [P29S]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [infertility] and the variant [P29S]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [M200V] and a disease [POF]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Genetic investigation of four meiotic genes in women with premature ovarian failure. - Abstract of the Paper: OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). DESIGN: Case-control study. METHODS: Blood sampling, karyotype, hormonal dosage, ultrasound, and ovarian biopsy were carried out on most patients. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls). RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. This mutation resulted in replacement of a non-polar amino acid (proline) with a polar amino acid (serine) at position 29 (P29S). Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon. Which sentences in the title and abstract that mention a variant [M200V]? [/INST] 1. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V).</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [POF]? [/INST] 1. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). 2. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls). 3. Genetic investigation of four meiotic genes in women with premature ovarian failure. 4. RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. 5. Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. 6. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). 7. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon.</s>\ <s>[INST] Which sentences mention both the entities a variant [M200V] and a disease [POF]? [/INST] 1. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V).</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [M200V] and the disease [POF]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [POF] and a variant [(proline) with a polar amino acid (serine) at position 29]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Genetic investigation of four meiotic genes in women with premature ovarian failure. - Abstract of the Paper: OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). DESIGN: Case-control study. METHODS: Blood sampling, karyotype, hormonal dosage, ultrasound, and ovarian biopsy were carried out on most patients. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls). RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. This mutation resulted in replacement of a non-polar amino acid (proline) with a polar amino acid (serine) at position 29 (P29S). Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian function. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon. Which sentences in the title and abstract that mention a disease [POF]? [/INST] 1. Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). 2. However, the main outcome measure was the sequencing of genomic DNA from peripheral blood samples of 41 women with POF and 36 fertile women (controls). 3. Genetic investigation of four meiotic genes in women with premature ovarian failure. 4. RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age. 5. Neither 36 control women nor 39 other patients with POF possessed this genetic perturbation. 6. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). 7. MSH5 and DMC1 mutations may be one explanation for POF, albeit uncommon.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [(proline) with a polar amino acid (serine) at position 29]? [/INST] 1. This mutation resulted in replacement of a non-polar amino acid (proline) with a polar amino acid (serine) at position 29 (P29S). 2. RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age.</s>\ <s>[INST] Which sentences mention both the entities a disease [POF] and a variant [(proline) with a polar amino acid (serine) at position 29]? [/INST] 1. RESULTS: A single heterozygous missense mutation, substitution of a cytosine residue with thymidine in exon 2 of MSH5, was found in two Caucasian women in whom POF developed at 18 and 36 years of age.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [POF] and the variant [(proline) with a polar amino acid (serine) at position 29]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [IRF5] and a disease [systemic lupus erythaematosus]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population. - Abstract of the Paper: OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a member of the IRF family of transcription factors, which regulate the production of proinflammatory cytokines. Polymorphisms in the IRF5 gene have been associated with susceptibility to systemic lupus erythaematosus (SLE) in Caucasian and Asian populations, but their involvement in other autoimmune diseases is still uncertain. Here, we assessed the genetic role of IRF5 in susceptibility to rheumatoid arthritis (RA) in Japanese subjects. METHODS: We selected 13 single nucleotide polymorphisms (SNPs) and a CGGGG insertion-deletion polymorphism in the IRF5 gene. We performed 2 sets of case-control comparisons using Japanese subjects (first set: 830 patients with RA and 658 controls; second set: 1112 patients with RA and 940 controls), and then performed a stratified analysis using human leukocyte antigen (HLA)-DRB1 shared epitope (SE) status. We genotyped the SNPs using TaqMan assays. RESULTS: A significant association of the rs729302 A allele with RA susceptibility was found in both sets (odds ratio (OR) 1.22, 95% CI 1.09 to 1.35, p<0.001 in the combined analysis). When the patients were stratified by the SE, the rs729302 A allele was found to confer increased risk to RA in patients that were SE negative (OR 1.50, 95% CI 1.17 to 1.92, p = 0.001) as compared with patients carrying the SE (OR 1.11, 95% CI 0.93 to 1.33, p = 0.24). In both sets, no genotyped polymorphisms were significantly associated with RA susceptibility, but rs729302 was significantly associated. CONCLUSIONS: These findings indicate that the promoter polymorphism of IRF5 is a genetic factor conferring predisposition to RA, and that it contributes considerably to disease pathogenesis in patients that were SE negative. Which sentences in the title and abstract that mention a gene or protein [IRF5]? [/INST] 1. OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a member of the IRF family of transcription factors, which regulate the production of proinflammatory cytokines. 2. METHODS: We selected 13 single nucleotide polymorphisms (SNPs) and a CGGGG insertion-deletion polymorphism in the IRF5 gene. 3. CONCLUSIONS: These findings indicate that the promoter polymorphism of IRF5 is a genetic factor conferring predisposition to RA, and that it contributes considerably to disease pathogenesis in patients that were SE negative. 4. Polymorphisms in the IRF5 gene have been associated with susceptibility to systemic lupus erythaematosus (SLE) in Caucasian and Asian populations, but their involvement in other autoimmune diseases is still uncertain. 5. Here, we assessed the genetic role of IRF5 in susceptibility to rheumatoid arthritis (RA) in Japanese subjects. 6. A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [systemic lupus erythaematosus]? [/INST] 1. Polymorphisms in the IRF5 gene have been associated with susceptibility to systemic lupus erythaematosus (SLE) in Caucasian and Asian populations, but their involvement in other autoimmune diseases is still uncertain.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [IRF5] and a disease [systemic lupus erythaematosus]? [/INST] 1. Polymorphisms in the IRF5 gene have been associated with susceptibility to systemic lupus erythaematosus (SLE) in Caucasian and Asian populations, but their involvement in other autoimmune diseases is still uncertain.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [IRF5] and the disease [systemic lupus erythaematosus]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [IRF5] and a disease [rheumatoid arthritis]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population. - Abstract of the Paper: OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a member of the IRF family of transcription factors, which regulate the production of proinflammatory cytokines. Polymorphisms in the IRF5 gene have been associated with susceptibility to systemic lupus erythaematosus (SLE) in Caucasian and Asian populations, but their involvement in other autoimmune diseases is still uncertain. Here, we assessed the genetic role of IRF5 in susceptibility to rheumatoid arthritis (RA) in Japanese subjects. METHODS: We selected 13 single nucleotide polymorphisms (SNPs) and a CGGGG insertion-deletion polymorphism in the IRF5 gene. We performed 2 sets of case-control comparisons using Japanese subjects (first set: 830 patients with RA and 658 controls; second set: 1112 patients with RA and 940 controls), and then performed a stratified analysis using human leukocyte antigen (HLA)-DRB1 shared epitope (SE) status. We genotyped the SNPs using TaqMan assays. RESULTS: A significant association of the rs729302 A allele with RA susceptibility was found in both sets (odds ratio (OR) 1.22, 95% CI 1.09 to 1.35, p<0.001 in the combined analysis). When the patients were stratified by the SE, the rs729302 A allele was found to confer increased risk to RA in patients that were SE negative (OR 1.50, 95% CI 1.17 to 1.92, p = 0.001) as compared with patients carrying the SE (OR 1.11, 95% CI 0.93 to 1.33, p = 0.24). In both sets, no genotyped polymorphisms were significantly associated with RA susceptibility, but rs729302 was significantly associated. CONCLUSIONS: These findings indicate that the promoter polymorphism of IRF5 is a genetic factor conferring predisposition to RA, and that it contributes considerably to disease pathogenesis in patients that were SE negative. Which sentences in the title and abstract that mention a gene or protein [IRF5]? [/INST] 1. OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a member of the IRF family of transcription factors, which regulate the production of proinflammatory cytokines. 2. METHODS: We selected 13 single nucleotide polymorphisms (SNPs) and a CGGGG insertion-deletion polymorphism in the IRF5 gene. 3. CONCLUSIONS: These findings indicate that the promoter polymorphism of IRF5 is a genetic factor conferring predisposition to RA, and that it contributes considerably to disease pathogenesis in patients that were SE negative. 4. Polymorphisms in the IRF5 gene have been associated with susceptibility to systemic lupus erythaematosus (SLE) in Caucasian and Asian populations, but their involvement in other autoimmune diseases is still uncertain. 5. Here, we assessed the genetic role of IRF5 in susceptibility to rheumatoid arthritis (RA) in Japanese subjects. 6. A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [rheumatoid arthritis]? [/INST] 1. We performed 2 sets of case-control comparisons using Japanese subjects (first set: 830 patients with RA and 658 controls; second set: 1112 patients with RA and 940 controls), and then performed a stratified analysis using human leukocyte antigen (HLA)-DRB1 shared epitope (SE) status. 2. In both sets, no genotyped polymorphisms were significantly associated with RA susceptibility, but rs729302 was significantly associated. 3. When the patients were stratified by the SE, the rs729302 A allele was found to confer increased risk to RA in patients that were SE negative (OR 1.50, 95% CI 1.17 to 1.92, p = 0.001) as compared with patients carrying the SE (OR 1.11, 95% CI 0.93 to 1.33, p = 0.24). 4. CONCLUSIONS: These findings indicate that the promoter polymorphism of IRF5 is a genetic factor conferring predisposition to RA, and that it contributes considerably to disease pathogenesis in patients that were SE negative. 5. RESULTS: A significant association of the rs729302 A allele with RA susceptibility was found in both sets (odds ratio (OR) 1.22, 95% CI 1.09 to 1.35, p<0.001 in the combined analysis). 6. Here, we assessed the genetic role of IRF5 in susceptibility to rheumatoid arthritis (RA) in Japanese subjects. 7. A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [IRF5] and a disease [rheumatoid arthritis]? [/INST] 1. CONCLUSIONS: These findings indicate that the promoter polymorphism of IRF5 is a genetic factor conferring predisposition to RA, and that it contributes considerably to disease pathogenesis in patients that were SE negative. 2. Here, we assessed the genetic role of IRF5 in susceptibility to rheumatoid arthritis (RA) in Japanese subjects. 3. A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [IRF5] and the disease [rheumatoid arthritis]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [rs729302] and a disease [RA]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population. - Abstract of the Paper: OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a member of the IRF family of transcription factors, which regulate the production of proinflammatory cytokines. Polymorphisms in the IRF5 gene have been associated with susceptibility to systemic lupus erythaematosus (SLE) in Caucasian and Asian populations, but their involvement in other autoimmune diseases is still uncertain. Here, we assessed the genetic role of IRF5 in susceptibility to rheumatoid arthritis (RA) in Japanese subjects. METHODS: We selected 13 single nucleotide polymorphisms (SNPs) and a CGGGG insertion-deletion polymorphism in the IRF5 gene. We performed 2 sets of case-control comparisons using Japanese subjects (first set: 830 patients with RA and 658 controls; second set: 1112 patients with RA and 940 controls), and then performed a stratified analysis using human leukocyte antigen (HLA)-DRB1 shared epitope (SE) status. We genotyped the SNPs using TaqMan assays. RESULTS: A significant association of the rs729302 A allele with RA susceptibility was found in both sets (odds ratio (OR) 1.22, 95% CI 1.09 to 1.35, p<0.001 in the combined analysis). When the patients were stratified by the SE, the rs729302 A allele was found to confer increased risk to RA in patients that were SE negative (OR 1.50, 95% CI 1.17 to 1.92, p = 0.001) as compared with patients carrying the SE (OR 1.11, 95% CI 0.93 to 1.33, p = 0.24). In both sets, no genotyped polymorphisms were significantly associated with RA susceptibility, but rs729302 was significantly associated. CONCLUSIONS: These findings indicate that the promoter polymorphism of IRF5 is a genetic factor conferring predisposition to RA, and that it contributes considerably to disease pathogenesis in patients that were SE negative. Which sentences in the title and abstract that mention a variant [rs729302]? [/INST] 1. In both sets, no genotyped polymorphisms were significantly associated with RA susceptibility, but rs729302 was significantly associated. 2. When the patients were stratified by the SE, the rs729302 A allele was found to confer increased risk to RA in patients that were SE negative (OR 1.50, 95% CI 1.17 to 1.92, p = 0.001) as compared with patients carrying the SE (OR 1.11, 95% CI 0.93 to 1.33, p = 0.24). 3. RESULTS: A significant association of the rs729302 A allele with RA susceptibility was found in both sets (odds ratio (OR) 1.22, 95% CI 1.09 to 1.35, p<0.001 in the combined analysis).</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [RA]? [/INST] 1. We performed 2 sets of case-control comparisons using Japanese subjects (first set: 830 patients with RA and 658 controls; second set: 1112 patients with RA and 940 controls), and then performed a stratified analysis using human leukocyte antigen (HLA)-DRB1 shared epitope (SE) status. 2. In both sets, no genotyped polymorphisms were significantly associated with RA susceptibility, but rs729302 was significantly associated. 3. When the patients were stratified by the SE, the rs729302 A allele was found to confer increased risk to RA in patients that were SE negative (OR 1.50, 95% CI 1.17 to 1.92, p = 0.001) as compared with patients carrying the SE (OR 1.11, 95% CI 0.93 to 1.33, p = 0.24). 4. CONCLUSIONS: These findings indicate that the promoter polymorphism of IRF5 is a genetic factor conferring predisposition to RA, and that it contributes considerably to disease pathogenesis in patients that were SE negative. 5. RESULTS: A significant association of the rs729302 A allele with RA susceptibility was found in both sets (odds ratio (OR) 1.22, 95% CI 1.09 to 1.35, p<0.001 in the combined analysis). 6. Here, we assessed the genetic role of IRF5 in susceptibility to rheumatoid arthritis (RA) in Japanese subjects. 7. A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population.</s>\ <s>[INST] Which sentences mention both the entities a variant [rs729302] and a disease [RA]? [/INST] 1. In both sets, no genotyped polymorphisms were significantly associated with RA susceptibility, but rs729302 was significantly associated. 2. When the patients were stratified by the SE, the rs729302 A allele was found to confer increased risk to RA in patients that were SE negative (OR 1.50, 95% CI 1.17 to 1.92, p = 0.001) as compared with patients carrying the SE (OR 1.11, 95% CI 0.93 to 1.33, p = 0.24). 3. RESULTS: A significant association of the rs729302 A allele with RA susceptibility was found in both sets (odds ratio (OR) 1.22, 95% CI 1.09 to 1.35, p<0.001 in the combined analysis).</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [rs729302] and the disease [RA]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [guanine insertion/deletion (G/D), the -1607 promoter polymorphism] and a disease [lumbar disc disease]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. - Abstract of the Paper: BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MMP1 gene was found significantly affecting promoter activity and corresponding transcription level. Hence it is a good candidate for genetic studies in DDD. METHODS: Southern Chinese volunteers between 18 and 55 years were recruited from the population. DDD in the lumbar spine was defined by MRI using Schneiderman's classification. Genomic DNA was isolated from the leukocytes and genotyping was performed using the Sequenom platform. Association and Hardy-Weinberg equilibrium checking were assessed by Chi-square test and Mann-Whitney U test. RESULTS: Our results showed substantial evidence of association between -1607 promoter polymorphism of MMP1 and DDD in the Southern Chinese subjects. D allelic was significantly associated with DDD (p value = 0.027, odds ratio = 1.41 with 95% CI = 1.04-1.90) while Genotypic association on the presence of D allele was also significantly associated with DDD (p value = 0.046, odds ratio = 1.50 with 95% CI = 1.01-2.24). Further age stratification showed significant genotypic as well as allelic association in the group of over 40 years (genotypic: p value = 0.035, odds ratio = 1.617 with 95% CI = 1.033-2.529; allelic: p value = 0.033, odds ratio = 1.445 with 95% CI = 1.029-2.029). Disc bulge, annular tears and the Schmorl's nodes were not associated with the D allele. CONCLUSION: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only. Further association was identified in individuals over 40 years of age. Disc bulge, annular tear as well as Schmorl's nodes were not associated with this polymorphism. Which sentences in the title and abstract that mention a variant [guanine insertion/deletion (G/D), the -1607 promoter polymorphism]? [/INST] 1. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MMP1 gene was found significantly affecting promoter activity and corresponding transcription level.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [lumbar disc disease]? [/INST] 1. Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese.</s>\ <s>[INST] Which sentences mention both the entities a variant [guanine insertion/deletion (G/D), the -1607 promoter polymorphism] and a disease [lumbar disc disease]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [guanine insertion/deletion (G/D), the -1607 promoter polymorphism] and the disease [lumbar disc disease]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [DDD] and a variant [guanine insertion/deletion (G/D), the -1607 promoter polymorphism]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. - Abstract of the Paper: BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MMP1 gene was found significantly affecting promoter activity and corresponding transcription level. Hence it is a good candidate for genetic studies in DDD. METHODS: Southern Chinese volunteers between 18 and 55 years were recruited from the population. DDD in the lumbar spine was defined by MRI using Schneiderman's classification. Genomic DNA was isolated from the leukocytes and genotyping was performed using the Sequenom platform. Association and Hardy-Weinberg equilibrium checking were assessed by Chi-square test and Mann-Whitney U test. RESULTS: Our results showed substantial evidence of association between -1607 promoter polymorphism of MMP1 and DDD in the Southern Chinese subjects. D allelic was significantly associated with DDD (p value = 0.027, odds ratio = 1.41 with 95% CI = 1.04-1.90) while Genotypic association on the presence of D allele was also significantly associated with DDD (p value = 0.046, odds ratio = 1.50 with 95% CI = 1.01-2.24). Further age stratification showed significant genotypic as well as allelic association in the group of over 40 years (genotypic: p value = 0.035, odds ratio = 1.617 with 95% CI = 1.033-2.529; allelic: p value = 0.033, odds ratio = 1.445 with 95% CI = 1.029-2.029). Disc bulge, annular tears and the Schmorl's nodes were not associated with the D allele. CONCLUSION: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only. Further association was identified in individuals over 40 years of age. Disc bulge, annular tear as well as Schmorl's nodes were not associated with this polymorphism. Which sentences in the title and abstract that mention a disease [DDD]? [/INST] 1. DDD in the lumbar spine was defined by MRI using Schneiderman's classification. 2. RESULTS: Our results showed substantial evidence of association between -1607 promoter polymorphism of MMP1 and DDD in the Southern Chinese subjects. 3. Hence it is a good candidate for genetic studies in DDD. 4. CONCLUSION: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only. 5. D allelic was significantly associated with DDD (p value = 0.027, odds ratio = 1.41 with 95% CI = 1.04-1.90) while Genotypic association on the presence of D allele was also significantly associated with DDD (p value = 0.046, odds ratio = 1.50 with 95% CI = 1.01-2.24).</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [guanine insertion/deletion (G/D), the -1607 promoter polymorphism]? [/INST] 1. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MMP1 gene was found significantly affecting promoter activity and corresponding transcription level.</s>\ <s>[INST] Which sentences mention both the entities a disease [DDD] and a variant [guanine insertion/deletion (G/D), the -1607 promoter polymorphism]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [DDD] and the variant [guanine insertion/deletion (G/D), the -1607 promoter polymorphism]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [D allele for the -1607] and a disease [DDD]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. - Abstract of the Paper: BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MMP1 gene was found significantly affecting promoter activity and corresponding transcription level. Hence it is a good candidate for genetic studies in DDD. METHODS: Southern Chinese volunteers between 18 and 55 years were recruited from the population. DDD in the lumbar spine was defined by MRI using Schneiderman's classification. Genomic DNA was isolated from the leukocytes and genotyping was performed using the Sequenom platform. Association and Hardy-Weinberg equilibrium checking were assessed by Chi-square test and Mann-Whitney U test. RESULTS: Our results showed substantial evidence of association between -1607 promoter polymorphism of MMP1 and DDD in the Southern Chinese subjects. D allelic was significantly associated with DDD (p value = 0.027, odds ratio = 1.41 with 95% CI = 1.04-1.90) while Genotypic association on the presence of D allele was also significantly associated with DDD (p value = 0.046, odds ratio = 1.50 with 95% CI = 1.01-2.24). Further age stratification showed significant genotypic as well as allelic association in the group of over 40 years (genotypic: p value = 0.035, odds ratio = 1.617 with 95% CI = 1.033-2.529; allelic: p value = 0.033, odds ratio = 1.445 with 95% CI = 1.029-2.029). Disc bulge, annular tears and the Schmorl's nodes were not associated with the D allele. CONCLUSION: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only. Further association was identified in individuals over 40 years of age. Disc bulge, annular tear as well as Schmorl's nodes were not associated with this polymorphism. Which sentences in the title and abstract that mention a variant [D allele for the -1607]? [/INST] 1. CONCLUSION: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [DDD]? [/INST] 1. DDD in the lumbar spine was defined by MRI using Schneiderman's classification. 2. RESULTS: Our results showed substantial evidence of association between -1607 promoter polymorphism of MMP1 and DDD in the Southern Chinese subjects. 3. Hence it is a good candidate for genetic studies in DDD. 4. CONCLUSION: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only. 5. D allelic was significantly associated with DDD (p value = 0.027, odds ratio = 1.41 with 95% CI = 1.04-1.90) while Genotypic association on the presence of D allele was also significantly associated with DDD (p value = 0.046, odds ratio = 1.50 with 95% CI = 1.01-2.24).</s>\ <s>[INST] Which sentences mention both the entities a variant [D allele for the -1607] and a disease [DDD]? [/INST] 1. CONCLUSION: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [D allele for the -1607] and the disease [DDD]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [MMP1] and a disease [DDD]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. - Abstract of the Paper: BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MMP1 gene was found significantly affecting promoter activity and corresponding transcription level. Hence it is a good candidate for genetic studies in DDD. METHODS: Southern Chinese volunteers between 18 and 55 years were recruited from the population. DDD in the lumbar spine was defined by MRI using Schneiderman's classification. Genomic DNA was isolated from the leukocytes and genotyping was performed using the Sequenom platform. Association and Hardy-Weinberg equilibrium checking were assessed by Chi-square test and Mann-Whitney U test. RESULTS: Our results showed substantial evidence of association between -1607 promoter polymorphism of MMP1 and DDD in the Southern Chinese subjects. D allelic was significantly associated with DDD (p value = 0.027, odds ratio = 1.41 with 95% CI = 1.04-1.90) while Genotypic association on the presence of D allele was also significantly associated with DDD (p value = 0.046, odds ratio = 1.50 with 95% CI = 1.01-2.24). Further age stratification showed significant genotypic as well as allelic association in the group of over 40 years (genotypic: p value = 0.035, odds ratio = 1.617 with 95% CI = 1.033-2.529; allelic: p value = 0.033, odds ratio = 1.445 with 95% CI = 1.029-2.029). Disc bulge, annular tears and the Schmorl's nodes were not associated with the D allele. CONCLUSION: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only. Further association was identified in individuals over 40 years of age. Disc bulge, annular tear as well as Schmorl's nodes were not associated with this polymorphism. Which sentences in the title and abstract that mention a gene or protein [MMP1]? [/INST] 1. RESULTS: Our results showed substantial evidence of association between -1607 promoter polymorphism of MMP1 and DDD in the Southern Chinese subjects. 2. Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. 3. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MMP1 gene was found significantly affecting promoter activity and corresponding transcription level. 4. CONCLUSION: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only. 5. BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [DDD]? [/INST] 1. DDD in the lumbar spine was defined by MRI using Schneiderman's classification. 2. RESULTS: Our results showed substantial evidence of association between -1607 promoter polymorphism of MMP1 and DDD in the Southern Chinese subjects. 3. Hence it is a good candidate for genetic studies in DDD. 4. CONCLUSION: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only. 5. D allelic was significantly associated with DDD (p value = 0.027, odds ratio = 1.41 with 95% CI = 1.04-1.90) while Genotypic association on the presence of D allele was also significantly associated with DDD (p value = 0.046, odds ratio = 1.50 with 95% CI = 1.01-2.24).</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [MMP1] and a disease [DDD]? [/INST] 1. CONCLUSION: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only. 2. RESULTS: Our results showed substantial evidence of association between -1607 promoter polymorphism of MMP1 and DDD in the Southern Chinese subjects.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [MMP1] and the disease [DDD]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [lumbar disc disease] and a gene or protein [MMP1]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. - Abstract of the Paper: BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MMP1 gene was found significantly affecting promoter activity and corresponding transcription level. Hence it is a good candidate for genetic studies in DDD. METHODS: Southern Chinese volunteers between 18 and 55 years were recruited from the population. DDD in the lumbar spine was defined by MRI using Schneiderman's classification. Genomic DNA was isolated from the leukocytes and genotyping was performed using the Sequenom platform. Association and Hardy-Weinberg equilibrium checking were assessed by Chi-square test and Mann-Whitney U test. RESULTS: Our results showed substantial evidence of association between -1607 promoter polymorphism of MMP1 and DDD in the Southern Chinese subjects. D allelic was significantly associated with DDD (p value = 0.027, odds ratio = 1.41 with 95% CI = 1.04-1.90) while Genotypic association on the presence of D allele was also significantly associated with DDD (p value = 0.046, odds ratio = 1.50 with 95% CI = 1.01-2.24). Further age stratification showed significant genotypic as well as allelic association in the group of over 40 years (genotypic: p value = 0.035, odds ratio = 1.617 with 95% CI = 1.033-2.529; allelic: p value = 0.033, odds ratio = 1.445 with 95% CI = 1.029-2.029). Disc bulge, annular tears and the Schmorl's nodes were not associated with the D allele. CONCLUSION: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only. Further association was identified in individuals over 40 years of age. Disc bulge, annular tear as well as Schmorl's nodes were not associated with this polymorphism. Which sentences in the title and abstract that mention a disease [lumbar disc disease]? [/INST] 1. Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese.</s>\ <s>[INST] Which sentences in the title and abstract that mention a gene or protein [MMP1]? [/INST] 1. RESULTS: Our results showed substantial evidence of association between -1607 promoter polymorphism of MMP1 and DDD in the Southern Chinese subjects. 2. Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. 3. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MMP1 gene was found significantly affecting promoter activity and corresponding transcription level. 4. CONCLUSION: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only. 5. BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc.</s>\ <s>[INST] Which sentences mention both the entities a disease [lumbar disc disease] and a gene or protein [MMP1]? [/INST] 1. Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [lumbar disc disease] and the gene or protein [MMP1]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a protein or gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or drug) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [epileptic] and a chemical [penicillin-G potassium]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Detailed spectral profile analysis of penicillin-induced epileptiform activity in anesthetized rats. - Abstract of the Paper: Penicillin model is a widely used experimental model for epilepsy research. In the present study we aimed to portray a detailed spectral analysis of penicillin-induced epileptiform activity in comparison with basal brain activity in anesthetized Wistar rats. Male Wistar rats were anesthetized with i.p. urethane and connected to an electrocorticogram setup. After a short period of basal activity recording, epileptic focus was induced by injecting 400IU/2 microl penicillin-G potassium into the left lateral ventricle while the cortical activity was continuously recorded. Basal activity, latent period and the penicillin-induced epileptiform activity periods were then analyzed using both conventional methods and spectral analysis. Spectral analyses were conducted by dividing the whole spectrum into different frequency bands including delta, theta (slow and fast), alpha-sigma, beta (1 and 2) and gamma (1 and 2) bands. Our results show that the most affected frequency bands were delta, theta, beta-2 and gamma-2 bands during the epileptiform activity and there were marked differences in terms of spectral densities between three investigated episodes (basal activity, latent period and epileptiform activity). Our results may help to analyze novel data obtained using similar experimental models and the simple analysis method described here can be used in similar studies to investigate the basic neuronal mechanism of this or other types of experimental epilepsies. Which sentences in the title and abstract that mention a disease [epileptic]? [/INST] 1. Basal activity, latent period and the penicillin-induced epileptiform activity periods were then analyzed using both conventional methods and spectral analysis. 2. Our results show that the most affected frequency bands were delta, theta, beta-2 and gamma-2 bands during the epileptiform activity and there were marked differences in terms of spectral densities between three investigated episodes (basal activity, latent period and epileptiform activity). 3. Detailed spectral profile analysis of penicillin-induced epileptiform activity in anesthetized rats. 4. In the present study we aimed to portray a detailed spectral analysis of penicillin-induced epileptiform activity in comparison with basal brain activity in anesthetized Wistar rats. 5. After a short period of basal activity recording, epileptic focus was induced by injecting 400IU/2 microl penicillin-G potassium into the left lateral ventricle while the cortical activity was continuously recorded. 6. Our results may help to analyze novel data obtained using similar experimental models and the simple analysis method described here can be used in similar studies to investigate the basic neuronal mechanism of this or other types of experimental epilepsies. 7. Penicillin model is a widely used experimental model for epilepsy research.</s>\ <s>[INST] Which sentences in the title and abstract that mention a chemical [penicillin-G potassium]? [/INST] 1. After a short period of basal activity recording, epileptic focus was induced by injecting 400IU/2 microl penicillin-G potassium into the left lateral ventricle while the cortical activity was continuously recorded.</s>\ <s>[INST] Which sentences mention both the entities a disease [epileptic] and a chemical [penicillin-G potassium]? [/INST] 1. After a short period of basal activity recording, epileptic focus was induced by injecting 400IU/2 microl penicillin-G potassium into the left lateral ventricle while the cortical activity was continuously recorded.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [epileptic] and the chemical [penicillin-G potassium]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a chemical [penicillin] and a disease [epileptiform activity]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Detailed spectral profile analysis of penicillin-induced epileptiform activity in anesthetized rats. - Abstract of the Paper: Penicillin model is a widely used experimental model for epilepsy research. In the present study we aimed to portray a detailed spectral analysis of penicillin-induced epileptiform activity in comparison with basal brain activity in anesthetized Wistar rats. Male Wistar rats were anesthetized with i.p. urethane and connected to an electrocorticogram setup. After a short period of basal activity recording, epileptic focus was induced by injecting 400IU/2 microl penicillin-G potassium into the left lateral ventricle while the cortical activity was continuously recorded. Basal activity, latent period and the penicillin-induced epileptiform activity periods were then analyzed using both conventional methods and spectral analysis. Spectral analyses were conducted by dividing the whole spectrum into different frequency bands including delta, theta (slow and fast), alpha-sigma, beta (1 and 2) and gamma (1 and 2) bands. Our results show that the most affected frequency bands were delta, theta, beta-2 and gamma-2 bands during the epileptiform activity and there were marked differences in terms of spectral densities between three investigated episodes (basal activity, latent period and epileptiform activity). Our results may help to analyze novel data obtained using similar experimental models and the simple analysis method described here can be used in similar studies to investigate the basic neuronal mechanism of this or other types of experimental epilepsies. Which sentences in the title and abstract that mention a chemical [penicillin]? [/INST] 1. In the present study we aimed to portray a detailed spectral analysis of penicillin-induced epileptiform activity in comparison with basal brain activity in anesthetized Wistar rats. 2. Basal activity, latent period and the penicillin-induced epileptiform activity periods were then analyzed using both conventional methods and spectral analysis. 3. Detailed spectral profile analysis of penicillin-induced epileptiform activity in anesthetized rats. 4. Penicillin model is a widely used experimental model for epilepsy research.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [epileptiform activity]? [/INST] 1. Basal activity, latent period and the penicillin-induced epileptiform activity periods were then analyzed using both conventional methods and spectral analysis. 2. Our results show that the most affected frequency bands were delta, theta, beta-2 and gamma-2 bands during the epileptiform activity and there were marked differences in terms of spectral densities between three investigated episodes (basal activity, latent period and epileptiform activity). 3. Detailed spectral profile analysis of penicillin-induced epileptiform activity in anesthetized rats. 4. In the present study we aimed to portray a detailed spectral analysis of penicillin-induced epileptiform activity in comparison with basal brain activity in anesthetized Wistar rats. 5. After a short period of basal activity recording, epileptic focus was induced by injecting 400IU/2 microl penicillin-G potassium into the left lateral ventricle while the cortical activity was continuously recorded. 6. Our results may help to analyze novel data obtained using similar experimental models and the simple analysis method described here can be used in similar studies to investigate the basic neuronal mechanism of this or other types of experimental epilepsies. 7. Penicillin model is a widely used experimental model for epilepsy research.</s>\ <s>[INST] Which sentences mention both the entities a chemical [penicillin] and a disease [epileptiform activity]? [/INST] 1. In the present study we aimed to portray a detailed spectral analysis of penicillin-induced epileptiform activity in comparison with basal brain activity in anesthetized Wistar rats. 2. Basal activity, latent period and the penicillin-induced epileptiform activity periods were then analyzed using both conventional methods and spectral analysis. 3. Detailed spectral profile analysis of penicillin-induced epileptiform activity in anesthetized rats. 4. Penicillin model is a widely used experimental model for epilepsy research.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the chemical [penicillin] and the disease [epileptiform activity]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [ventriculomegaly] and a variant [p.M453T]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. - Abstract of the Paper: OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. PATIENTS: Three affected individuals from the same family (a father and his two children) were studied. Clinical and imaging findings were reviewed and compared. GENETIC ANALYSIS: Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing. RESULTS: A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children. They presented with different clinical severity and variable age of onset. In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. In addition, the shortening of the middle phalanges of the fifth fingers has never been previously described, expanding the phenotypic spectrum of the disease. Which sentences in the title and abstract that mention a disease [ventriculomegaly]? [/INST] 1. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. 2. In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [p.M453T]? [/INST] 1. Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. 2. RESULTS: A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children.</s>\ <s>[INST] Which sentences mention both the entities a disease [ventriculomegaly] and a variant [p.M453T]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [ventriculomegaly] and the variant [p.M453T]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [hyperthyroidism] and a variant [p.M453T]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. - Abstract of the Paper: OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. PATIENTS: Three affected individuals from the same family (a father and his two children) were studied. Clinical and imaging findings were reviewed and compared. GENETIC ANALYSIS: Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing. RESULTS: A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children. They presented with different clinical severity and variable age of onset. In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. In addition, the shortening of the middle phalanges of the fifth fingers has never been previously described, expanding the phenotypic spectrum of the disease. Which sentences in the title and abstract that mention a disease [hyperthyroidism]? [/INST] 1. In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [p.M453T]? [/INST] 1. Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. 2. RESULTS: A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children.</s>\ <s>[INST] Which sentences mention both the entities a disease [hyperthyroidism] and a variant [p.M453T]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [hyperthyroidism] and the variant [p.M453T]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [TSHR] and a disease [Ventriculomegaly]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. - Abstract of the Paper: OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. PATIENTS: Three affected individuals from the same family (a father and his two children) were studied. Clinical and imaging findings were reviewed and compared. GENETIC ANALYSIS: Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing. RESULTS: A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children. They presented with different clinical severity and variable age of onset. In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. In addition, the shortening of the middle phalanges of the fifth fingers has never been previously described, expanding the phenotypic spectrum of the disease. Which sentences in the title and abstract that mention a gene or protein [TSHR]? [/INST] 1. OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. 2. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. 3. Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. 4. GENETIC ANALYSIS: Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing. 5. RESULTS: A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [Ventriculomegaly]? [/INST] 1. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. 2. In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [TSHR] and a disease [Ventriculomegaly]? [/INST] 1. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [TSHR] and the disease [Ventriculomegaly]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [TSHR] and a disease [hyperthyroidism]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. - Abstract of the Paper: OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. PATIENTS: Three affected individuals from the same family (a father and his two children) were studied. Clinical and imaging findings were reviewed and compared. GENETIC ANALYSIS: Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing. RESULTS: A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children. They presented with different clinical severity and variable age of onset. In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. In addition, the shortening of the middle phalanges of the fifth fingers has never been previously described, expanding the phenotypic spectrum of the disease. Which sentences in the title and abstract that mention a gene or protein [TSHR]? [/INST] 1. OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. 2. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. 3. Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. 4. GENETIC ANALYSIS: Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing. 5. RESULTS: A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [hyperthyroidism]? [/INST] 1. In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [TSHR] and a disease [hyperthyroidism]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [TSHR] and the disease [hyperthyroidism]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [non-autoimmune hyperthyroidism] and a gene or protein [thyrotropin receptor]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. - Abstract of the Paper: OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. PATIENTS: Three affected individuals from the same family (a father and his two children) were studied. Clinical and imaging findings were reviewed and compared. GENETIC ANALYSIS: Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing. RESULTS: A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children. They presented with different clinical severity and variable age of onset. In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. In addition, the shortening of the middle phalanges of the fifth fingers has never been previously described, expanding the phenotypic spectrum of the disease. Which sentences in the title and abstract that mention a disease [non-autoimmune hyperthyroidism]? [/INST] 1. OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. 2. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. 3. Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.</s>\ <s>[INST] Which sentences in the title and abstract that mention a gene or protein [thyrotropin receptor]? [/INST] 1. OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. 2. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. 3. Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. 4. GENETIC ANALYSIS: Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing. 5. RESULTS: A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children.</s>\ <s>[INST] Which sentences mention both the entities a disease [non-autoimmune hyperthyroidism] and a gene or protein [thyrotropin receptor]? [/INST] 1. OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. 2. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. 3. Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [non-autoimmune hyperthyroidism] and the gene or protein [thyrotropin receptor]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a protein or gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or drug) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [non-autoimmune hyperthyroidism] and a variant [p.M453T]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. - Abstract of the Paper: OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. PATIENTS: Three affected individuals from the same family (a father and his two children) were studied. Clinical and imaging findings were reviewed and compared. GENETIC ANALYSIS: Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing. RESULTS: A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children. They presented with different clinical severity and variable age of onset. In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. In addition, the shortening of the middle phalanges of the fifth fingers has never been previously described, expanding the phenotypic spectrum of the disease. Which sentences in the title and abstract that mention a disease [non-autoimmune hyperthyroidism]? [/INST] 1. OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. 2. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. 3. Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [p.M453T]? [/INST] 1. Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. 2. RESULTS: A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children.</s>\ <s>[INST] Which sentences mention both the entities a disease [non-autoimmune hyperthyroidism] and a variant [p.M453T]? [/INST] 1. Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [non-autoimmune hyperthyroidism] and the variant [p.M453T]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [ATR1] and a disease [vasovagal syncope]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system. - Abstract of the Paper: PURPOSE: The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate variability during a head-up tilt test (HUT) in patients with vasovagal syncope. METHODS: DNA was collected from 191 patients (mean age 44+/-18 years, 61 men, 130 women). The following gene polymorphisms were determined in genomic DNA: angiotensin-converting enzyme insertion/deletion polymorphism (I/D ACE), angiotensinogen gene polymorphism (M 235), angiotensin II receptor type 1 (ATR1) polymorphism (A 11666C), and polymorphism of serotonin transporter gene (5HTTLPR).Heart rate variability during HUT was assessed in 5-minute intervals by low frequency, high frequency, standard deviation of the normal-to-normal (SDNN), and root mean square successive difference parameters. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT. Its role in genetic predisposition to vasovagal syncope cannot be excluded. Which sentences in the title and abstract that mention a gene or protein [ATR1]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT. 2. The following gene polymorphisms were determined in genomic DNA: angiotensin-converting enzyme insertion/deletion polymorphism (I/D ACE), angiotensinogen gene polymorphism (M 235), angiotensin II receptor type 1 (ATR1) polymorphism (A 11666C), and polymorphism of serotonin transporter gene (5HTTLPR).Heart rate variability during HUT was assessed in 5-minute intervals by low frequency, high frequency, standard deviation of the normal-to-normal (SDNN), and root mean square successive difference parameters.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [vasovagal syncope]? [/INST] 1. PURPOSE: The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate variability during a head-up tilt test (HUT) in patients with vasovagal syncope. 2. Its role in genetic predisposition to vasovagal syncope cannot be excluded.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [ATR1] and a disease [vasovagal syncope]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [ATR1] and the disease [vasovagal syncope]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [ATR1] and a disease [hypotension]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system. - Abstract of the Paper: PURPOSE: The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate variability during a head-up tilt test (HUT) in patients with vasovagal syncope. METHODS: DNA was collected from 191 patients (mean age 44+/-18 years, 61 men, 130 women). The following gene polymorphisms were determined in genomic DNA: angiotensin-converting enzyme insertion/deletion polymorphism (I/D ACE), angiotensinogen gene polymorphism (M 235), angiotensin II receptor type 1 (ATR1) polymorphism (A 11666C), and polymorphism of serotonin transporter gene (5HTTLPR).Heart rate variability during HUT was assessed in 5-minute intervals by low frequency, high frequency, standard deviation of the normal-to-normal (SDNN), and root mean square successive difference parameters. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT. Its role in genetic predisposition to vasovagal syncope cannot be excluded. Which sentences in the title and abstract that mention a gene or protein [ATR1]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT. 2. The following gene polymorphisms were determined in genomic DNA: angiotensin-converting enzyme insertion/deletion polymorphism (I/D ACE), angiotensinogen gene polymorphism (M 235), angiotensin II receptor type 1 (ATR1) polymorphism (A 11666C), and polymorphism of serotonin transporter gene (5HTTLPR).Heart rate variability during HUT was assessed in 5-minute intervals by low frequency, high frequency, standard deviation of the normal-to-normal (SDNN), and root mean square successive difference parameters.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [hypotension]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [ATR1] and a disease [hypotension]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [ATR1] and the disease [hypotension]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [syncope] and a gene or protein [ATR1]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system. - Abstract of the Paper: PURPOSE: The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate variability during a head-up tilt test (HUT) in patients with vasovagal syncope. METHODS: DNA was collected from 191 patients (mean age 44+/-18 years, 61 men, 130 women). The following gene polymorphisms were determined in genomic DNA: angiotensin-converting enzyme insertion/deletion polymorphism (I/D ACE), angiotensinogen gene polymorphism (M 235), angiotensin II receptor type 1 (ATR1) polymorphism (A 11666C), and polymorphism of serotonin transporter gene (5HTTLPR).Heart rate variability during HUT was assessed in 5-minute intervals by low frequency, high frequency, standard deviation of the normal-to-normal (SDNN), and root mean square successive difference parameters. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT. Its role in genetic predisposition to vasovagal syncope cannot be excluded. Which sentences in the title and abstract that mention a disease [syncope]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT.</s>\ <s>[INST] Which sentences in the title and abstract that mention a gene or protein [ATR1]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT. 2. The following gene polymorphisms were determined in genomic DNA: angiotensin-converting enzyme insertion/deletion polymorphism (I/D ACE), angiotensinogen gene polymorphism (M 235), angiotensin II receptor type 1 (ATR1) polymorphism (A 11666C), and polymorphism of serotonin transporter gene (5HTTLPR).Heart rate variability during HUT was assessed in 5-minute intervals by low frequency, high frequency, standard deviation of the normal-to-normal (SDNN), and root mean square successive difference parameters.</s>\ <s>[INST] Which sentences mention both the entities a disease [syncope] and a gene or protein [ATR1]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [syncope] and the gene or protein [ATR1]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a protein or gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or drug) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [syncope] and a variant [A 1166C]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system. - Abstract of the Paper: PURPOSE: The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate variability during a head-up tilt test (HUT) in patients with vasovagal syncope. METHODS: DNA was collected from 191 patients (mean age 44+/-18 years, 61 men, 130 women). The following gene polymorphisms were determined in genomic DNA: angiotensin-converting enzyme insertion/deletion polymorphism (I/D ACE), angiotensinogen gene polymorphism (M 235), angiotensin II receptor type 1 (ATR1) polymorphism (A 11666C), and polymorphism of serotonin transporter gene (5HTTLPR).Heart rate variability during HUT was assessed in 5-minute intervals by low frequency, high frequency, standard deviation of the normal-to-normal (SDNN), and root mean square successive difference parameters. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT. Its role in genetic predisposition to vasovagal syncope cannot be excluded. Which sentences in the title and abstract that mention a disease [syncope]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [A 1166C]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT. 2. The following gene polymorphisms were determined in genomic DNA: angiotensin-converting enzyme insertion/deletion polymorphism (I/D ACE), angiotensinogen gene polymorphism (M 235), angiotensin II receptor type 1 (ATR1) polymorphism (A 11666C), and polymorphism of serotonin transporter gene (5HTTLPR).Heart rate variability during HUT was assessed in 5-minute intervals by low frequency, high frequency, standard deviation of the normal-to-normal (SDNN), and root mean square successive difference parameters.</s>\ <s>[INST] Which sentences mention both the entities a disease [syncope] and a variant [A 1166C]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [syncope] and the variant [A 1166C]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [A 1166C] and a disease [vasovagal syncope]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system. - Abstract of the Paper: PURPOSE: The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate variability during a head-up tilt test (HUT) in patients with vasovagal syncope. METHODS: DNA was collected from 191 patients (mean age 44+/-18 years, 61 men, 130 women). The following gene polymorphisms were determined in genomic DNA: angiotensin-converting enzyme insertion/deletion polymorphism (I/D ACE), angiotensinogen gene polymorphism (M 235), angiotensin II receptor type 1 (ATR1) polymorphism (A 11666C), and polymorphism of serotonin transporter gene (5HTTLPR).Heart rate variability during HUT was assessed in 5-minute intervals by low frequency, high frequency, standard deviation of the normal-to-normal (SDNN), and root mean square successive difference parameters. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT. Its role in genetic predisposition to vasovagal syncope cannot be excluded. Which sentences in the title and abstract that mention a variant [A 1166C]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT. 2. The following gene polymorphisms were determined in genomic DNA: angiotensin-converting enzyme insertion/deletion polymorphism (I/D ACE), angiotensinogen gene polymorphism (M 235), angiotensin II receptor type 1 (ATR1) polymorphism (A 11666C), and polymorphism of serotonin transporter gene (5HTTLPR).Heart rate variability during HUT was assessed in 5-minute intervals by low frequency, high frequency, standard deviation of the normal-to-normal (SDNN), and root mean square successive difference parameters.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [vasovagal syncope]? [/INST] 1. PURPOSE: The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate variability during a head-up tilt test (HUT) in patients with vasovagal syncope. 2. Its role in genetic predisposition to vasovagal syncope cannot be excluded.</s>\ <s>[INST] Which sentences mention both the entities a variant [A 1166C] and a disease [vasovagal syncope]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [A 1166C] and the disease [vasovagal syncope]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [A 1166C] and a disease [hypotension]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system. - Abstract of the Paper: PURPOSE: The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate variability during a head-up tilt test (HUT) in patients with vasovagal syncope. METHODS: DNA was collected from 191 patients (mean age 44+/-18 years, 61 men, 130 women). The following gene polymorphisms were determined in genomic DNA: angiotensin-converting enzyme insertion/deletion polymorphism (I/D ACE), angiotensinogen gene polymorphism (M 235), angiotensin II receptor type 1 (ATR1) polymorphism (A 11666C), and polymorphism of serotonin transporter gene (5HTTLPR).Heart rate variability during HUT was assessed in 5-minute intervals by low frequency, high frequency, standard deviation of the normal-to-normal (SDNN), and root mean square successive difference parameters. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT. Its role in genetic predisposition to vasovagal syncope cannot be excluded. Which sentences in the title and abstract that mention a variant [A 1166C]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT. 2. The following gene polymorphisms were determined in genomic DNA: angiotensin-converting enzyme insertion/deletion polymorphism (I/D ACE), angiotensinogen gene polymorphism (M 235), angiotensin II receptor type 1 (ATR1) polymorphism (A 11666C), and polymorphism of serotonin transporter gene (5HTTLPR).Heart rate variability during HUT was assessed in 5-minute intervals by low frequency, high frequency, standard deviation of the normal-to-normal (SDNN), and root mean square successive difference parameters.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [hypotension]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT.</s>\ <s>[INST] Which sentences mention both the entities a variant [A 1166C] and a disease [hypotension]? [/INST] 1. RESULTS: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04) CONCLUSION: AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [A 1166C] and the disease [hypotension]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [Joubert syndrome (JBTS) type 6] and a variant [p.G821R]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a disease [Joubert syndrome (JBTS) type 6]? [/INST] 1. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [p.G821R]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences mention both the entities a disease [Joubert syndrome (JBTS) type 6] and a variant [p.G821R]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [Joubert syndrome (JBTS) type 6] and the variant [p.G821R]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [Joubert syndrome (JBTS) type 6] and a variant [p.C615R]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a disease [Joubert syndrome (JBTS) type 6]? [/INST] 1. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [p.C615R]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences mention both the entities a disease [Joubert syndrome (JBTS) type 6] and a variant [p.C615R]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [Joubert syndrome (JBTS) type 6] and the variant [p.C615R]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [Joubert syndrome (JBTS) type 6] and a variant [p.W290L]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a disease [Joubert syndrome (JBTS) type 6]? [/INST] 1. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [p.W290L]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences mention both the entities a disease [Joubert syndrome (JBTS) type 6] and a variant [p.W290L]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [Joubert syndrome (JBTS) type 6] and the variant [p.W290L]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [Meckel-Gruber syndrome (MKS) type 3] and a variant [p.G821R]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a disease [Meckel-Gruber syndrome (MKS) type 3]? [/INST] 1. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [p.G821R]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences mention both the entities a disease [Meckel-Gruber syndrome (MKS) type 3] and a variant [p.G821R]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [Meckel-Gruber syndrome (MKS) type 3] and the variant [p.G821R]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [Meckel-Gruber syndrome (MKS) type 3] and a variant [p.C615R]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a disease [Meckel-Gruber syndrome (MKS) type 3]? [/INST] 1. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [p.C615R]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences mention both the entities a disease [Meckel-Gruber syndrome (MKS) type 3] and a variant [p.C615R]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [Meckel-Gruber syndrome (MKS) type 3] and the variant [p.C615R]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [Meckel-Gruber syndrome (MKS) type 3] and a variant [p.W290L]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a disease [Meckel-Gruber syndrome (MKS) type 3]? [/INST] 1. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [p.W290L]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences mention both the entities a disease [Meckel-Gruber syndrome (MKS) type 3] and a variant [p.W290L]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [Meckel-Gruber syndrome (MKS) type 3] and the variant [p.W290L]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [p.G821S] and a disease [NPHP]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a variant [p.G821S]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [NPHP]? [/INST] 1. BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. 2. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. 3. Thus NPHP, JBTS, and MKS represent allelic disorders. 4. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. 5. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations.</s>\ <s>[INST] Which sentences mention both the entities a variant [p.G821S] and a disease [NPHP]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [p.G821S] and the disease [NPHP]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [p.G821R] and a disease [MKS]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a variant [p.G821R]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [MKS]? [/INST] 1. Thus NPHP, JBTS, and MKS represent allelic disorders. 2. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype.</s>\ <s>[INST] Which sentences mention both the entities a variant [p.G821R] and a disease [MKS]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [p.G821R] and the disease [MKS]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [p.G821R] and a disease [JBTS]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a variant [p.G821R]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [JBTS]? [/INST] 1. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 2. Thus NPHP, JBTS, and MKS represent allelic disorders. 3. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. 4. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype.</s>\ <s>[INST] Which sentences mention both the entities a variant [p.G821R] and a disease [JBTS]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [p.G821R] and the disease [JBTS]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [p.G821S] and a disease [liver fibrosis]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a variant [p.G821S]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [liver fibrosis]? [/INST] 1. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 2. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. 3. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. 4. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. 5. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations.</s>\ <s>[INST] Which sentences mention both the entities a variant [p.G821S] and a disease [liver fibrosis]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [p.G821S] and the disease [liver fibrosis]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [p.C615R] and a disease [NPHP]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a variant [p.C615R]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [NPHP]? [/INST] 1. BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. 2. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. 3. Thus NPHP, JBTS, and MKS represent allelic disorders. 4. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. 5. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations.</s>\ <s>[INST] Which sentences mention both the entities a variant [p.C615R] and a disease [NPHP]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [p.C615R] and the disease [NPHP]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [p.C615R] and a disease [MKS]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a variant [p.C615R]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [MKS]? [/INST] 1. Thus NPHP, JBTS, and MKS represent allelic disorders. 2. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype.</s>\ <s>[INST] Which sentences mention both the entities a variant [p.C615R] and a disease [MKS]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [p.C615R] and the disease [MKS]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [p.C615R] and a disease [Joubert syndrome]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a variant [p.C615R]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [Joubert syndrome]? [/INST] 1. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 2. Thus NPHP, JBTS, and MKS represent allelic disorders. 3. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. 4. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype.</s>\ <s>[INST] Which sentences mention both the entities a variant [p.C615R] and a disease [Joubert syndrome]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [p.C615R] and the disease [Joubert syndrome]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [p.C615R] and a disease [liver fibrosis]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a variant [p.C615R]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [liver fibrosis]? [/INST] 1. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 2. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. 3. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. 4. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. 5. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations.</s>\ <s>[INST] Which sentences mention both the entities a variant [p.C615R] and a disease [liver fibrosis]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [p.C615R] and the disease [liver fibrosis]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [p.W290L] and a disease [NPHP]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a variant [p.W290L]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [NPHP]? [/INST] 1. BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. 2. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. 3. Thus NPHP, JBTS, and MKS represent allelic disorders. 4. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. 5. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations.</s>\ <s>[INST] Which sentences mention both the entities a variant [p.W290L] and a disease [NPHP]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [p.W290L] and the disease [NPHP]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [p.W290L] and a disease [MKS]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a variant [p.W290L]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [MKS]? [/INST] 1. Thus NPHP, JBTS, and MKS represent allelic disorders. 2. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype.</s>\ <s>[INST] Which sentences mention both the entities a variant [p.W290L] and a disease [MKS]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [p.W290L] and the disease [MKS]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [p.W290L] and a disease [Joubert syndrome]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a variant [p.W290L]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [Joubert syndrome]? [/INST] 1. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 2. Thus NPHP, JBTS, and MKS represent allelic disorders. 3. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. 4. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype.</s>\ <s>[INST] Which sentences mention both the entities a variant [p.W290L] and a disease [Joubert syndrome]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [p.W290L] and the disease [Joubert syndrome]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a variant [p.W290L] and a disease [liver fibrosis]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a variant [p.W290L]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [liver fibrosis]? [/INST] 1. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 2. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. 3. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. 4. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. 5. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations.</s>\ <s>[INST] Which sentences mention both the entities a variant [p.W290L] and a disease [liver fibrosis]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the variant [p.W290L] and the disease [liver fibrosis]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [NPHP with liver fibrosis] and a variant [p.G821R]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a disease [NPHP with liver fibrosis]? [/INST] 1. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 2. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11).</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [p.G821R]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences mention both the entities a disease [NPHP with liver fibrosis] and a variant [p.G821R]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [NPHP with liver fibrosis] and the variant [p.G821R]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [NPHP with liver fibrosis] and a variant [p.C615R]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a disease [NPHP with liver fibrosis]? [/INST] 1. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 2. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11).</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [p.C615R]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences mention both the entities a disease [NPHP with liver fibrosis] and a variant [p.C615R]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [NPHP with liver fibrosis] and the variant [p.C615R]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [NPHP11] and a variant [p.W290L]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a disease [NPHP11]? [/INST] 1. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 2. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11).</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [p.W290L]? [/INST] 1. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.</s>\ <s>[INST] Which sentences mention both the entities a disease [NPHP11] and a variant [p.W290L]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [NPHP11] and the variant [p.W290L]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [TMEM67] and a disease [Joubert syndrome (JBTS) type 6]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a gene or protein [TMEM67]? [/INST] 1. This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. 2. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 3. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 4. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. 5. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 6. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [Joubert syndrome (JBTS) type 6]? [/INST] 1. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [TMEM67] and a disease [Joubert syndrome (JBTS) type 6]? [/INST] 1. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [TMEM67] and the disease [Joubert syndrome (JBTS) type 6]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [TMEM67] and a disease [Meckel-Gruber syndrome (MKS) type 3]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a gene or protein [TMEM67]? [/INST] 1. This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. 2. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 3. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 4. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. 5. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 6. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [Meckel-Gruber syndrome (MKS) type 3]? [/INST] 1. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [TMEM67] and a disease [Meckel-Gruber syndrome (MKS) type 3]? [/INST] 1. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [TMEM67] and the disease [Meckel-Gruber syndrome (MKS) type 3]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [TMEM67] and a disease [NPHP]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a gene or protein [TMEM67]? [/INST] 1. This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. 2. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 3. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 4. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. 5. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 6. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [NPHP]? [/INST] 1. BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. 2. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. 3. Thus NPHP, JBTS, and MKS represent allelic disorders. 4. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. 5. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [TMEM67] and a disease [NPHP]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [TMEM67] and the disease [NPHP]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [MKS3] and a disease [MKS]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a gene or protein [MKS3]? [/INST] 1. This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. 2. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 3. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 4. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. 5. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 6. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [MKS]? [/INST] 1. Thus NPHP, JBTS, and MKS represent allelic disorders. 2. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [MKS3] and a disease [MKS]? [/INST] There is no sentence that contains both these two entities.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [MKS3] and the disease [MKS]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [MKS3] and a disease [JBTS]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a gene or protein [MKS3]? [/INST] 1. This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. 2. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 3. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 4. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. 5. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 6. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [JBTS]? [/INST] 1. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 2. Thus NPHP, JBTS, and MKS represent allelic disorders. 3. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. 4. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [MKS3] and a disease [JBTS]? [/INST] 1. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [MKS3] and the disease [JBTS]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [MKS3] and a disease [liver fibrosis]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a gene or protein [MKS3]? [/INST] 1. This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. 2. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 3. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 4. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. 5. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 6. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [liver fibrosis]? [/INST] 1. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 2. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. 3. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. 4. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. 5. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [MKS3] and a disease [liver fibrosis]? [/INST] 1. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [MKS3] and the disease [liver fibrosis]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [TMEM67] and a disease [nephronophthisis with liver fibrosis]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). - Abstract of the Paper: BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS: To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders. Which sentences in the title and abstract that mention a gene or protein [TMEM67]? [/INST] 1. This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. 2. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). 3. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis. 4. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. 5. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 6. RESULTS: The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [nephronophthisis with liver fibrosis]? [/INST] 1. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 2. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11).</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [TMEM67] and a disease [nephronophthisis with liver fibrosis]? [/INST] 1. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 2. CONCLUSIONS: Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11).</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [TMEM67] and the disease [nephronophthisis with liver fibrosis]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a disease [PD] and a variant [insertion/deletion (long allele-L/short allele-S) of 43 bp]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy. - Abstract of the Paper: Parkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region. The SLC6A4 promoter single nucleotide polymorphism rs25531(A-->G) was evaluated too. We collected 837 independent subjects (393 PD, 444 controls). An association between the 5-HTTLPR polymorphism and risk of PD (S/S genotype OR [95% CI]: 1.7[1.2-2.5], p = 0.002) was found. The rs25531 and the haplotype 5-HTTLPR/rs25531 did not associate with risk of PD. Our data indicate that the 5-HTTLPR polymorphic element within the SLC6A4 promoter may govern the genetic risk of PD in Italians. Which sentences in the title and abstract that mention a disease [PD]? [/INST] 1. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region. 2. Parkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. 3. We collected 837 independent subjects (393 PD, 444 controls). 4. Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy. 5. Our data indicate that the 5-HTTLPR polymorphic element within the SLC6A4 promoter may govern the genetic risk of PD in Italians. 6. An association between the 5-HTTLPR polymorphism and risk of PD (S/S genotype OR [95% CI]: 1.7[1.2-2.5], p = 0.002) was found. 7. The rs25531 and the haplotype 5-HTTLPR/rs25531 did not associate with risk of PD.</s>\ <s>[INST] Which sentences in the title and abstract that mention a variant [insertion/deletion (long allele-L/short allele-S) of 43 bp]? [/INST] 1. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region.</s>\ <s>[INST] Which sentences mention both the entities a disease [PD] and a variant [insertion/deletion (long allele-L/short allele-S) of 43 bp]? [/INST] 1. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the disease [PD] and the variant [insertion/deletion (long allele-L/short allele-S) of 43 bp]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task is to analyze the provided abstract of a medical article to answer questions about the relationship between two entities: a gene or protein [5-HTTLPR] and a disease [Parkinson's disease]. Pay close attention to how these entities are discussed in the context of the article. <</SYS>> - Title of the Paper: Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy. - Abstract of the Paper: Parkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region. The SLC6A4 promoter single nucleotide polymorphism rs25531(A-->G) was evaluated too. We collected 837 independent subjects (393 PD, 444 controls). An association between the 5-HTTLPR polymorphism and risk of PD (S/S genotype OR [95% CI]: 1.7[1.2-2.5], p = 0.002) was found. The rs25531 and the haplotype 5-HTTLPR/rs25531 did not associate with risk of PD. Our data indicate that the 5-HTTLPR polymorphic element within the SLC6A4 promoter may govern the genetic risk of PD in Italians. Which sentences in the title and abstract that mention a gene or protein [5-HTTLPR]? [/INST] 1. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region. 2. Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy. 3. Our data indicate that the 5-HTTLPR polymorphic element within the SLC6A4 promoter may govern the genetic risk of PD in Italians. 4. The SLC6A4 promoter single nucleotide polymorphism rs25531(A-->G) was evaluated too. 5. An association between the 5-HTTLPR polymorphism and risk of PD (S/S genotype OR [95% CI]: 1.7[1.2-2.5], p = 0.002) was found. 6. The rs25531 and the haplotype 5-HTTLPR/rs25531 did not associate with risk of PD.</s>\ <s>[INST] Which sentences in the title and abstract that mention a disease [Parkinson's disease]? [/INST] 1. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region. 2. Parkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. 3. We collected 837 independent subjects (393 PD, 444 controls). 4. Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy. 5. Our data indicate that the 5-HTTLPR polymorphic element within the SLC6A4 promoter may govern the genetic risk of PD in Italians. 6. An association between the 5-HTTLPR polymorphism and risk of PD (S/S genotype OR [95% CI]: 1.7[1.2-2.5], p = 0.002) was found. 7. The rs25531 and the haplotype 5-HTTLPR/rs25531 did not associate with risk of PD.</s>\ <s>[INST] Which sentences mention both the entities a gene or protein [5-HTTLPR] and a disease [Parkinson's disease]? [/INST] 1. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region. 2. Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy. 3. Our data indicate that the 5-HTTLPR polymorphic element within the SLC6A4 promoter may govern the genetic risk of PD in Italians. 4. An association between the 5-HTTLPR polymorphism and risk of PD (S/S genotype OR [95% CI]: 1.7[1.2-2.5], p = 0.002) was found. 5. The rs25531 and the haplotype 5-HTTLPR/rs25531 did not associate with risk of PD.</s>\ <s>[INST] Based on your previous answers and articles,analyze the relationship between the gene or protein [5-HTTLPR] and the disease [Parkinson's disease]. Choose the most accurate description of their relationship from the following options: ['Positive_Correlation', 'Negative_Correlation', 'Association'] Option Descriptions:'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. Select the most appropriate option to describe their relationship, based on the abstract. No additional explanation is required. [/INST] Association</s>

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