PubMed:10090412 JSONTXT

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"10090412-0#18#26#geners1801483","span":{"begin":18,"end":26},"obj":"geners1801483"},{"id":"10090412-0#86#101#diseaseC0011860","span":{"begin":86,"end":101},"obj":"diseaseC0011860"},{"id":"10090412-0#105#127#diseaseC0085580","span":{"begin":105,"end":127},"obj":"diseaseC0085580"}],"relations":[{"id":"18#26#geners180148386#101#diseaseC0011860","pred":"associated_with","subj":"10090412-0#18#26#geners1801483","obj":"10090412-0#86#101#diseaseC0011860"},{"id":"18#26#geners1801483105#127#diseaseC0085580","pred":"associated_with","subj":"10090412-0#18#26#geners1801483","obj":"10090412-0#105#127#diseaseC0085580"}],"text":"Screening for the Gly40Ser mutation in the glucagon receptor gene among patients with type 2 diabetes or essential hypertension in Taiwan.\nAs a major counterregulatory hormone of insulin, glucagon plays an important role in regulating glucose homeostasis through its binding to the glucagon receptor. Recently a missense mutation in the glucagon-receptor gene (Gly40Ser) was found to be associated with type 2 diabetes in France and Sardinia, with a frequency as high as 4.6% and 8.3%, respectively. This mutation was also found to be associated with essential hypertension in the white population with a frequency of 5.4%. To investigate the role of this mutation in the pathogenesis of type 2 diabetes and essential hypertension in Taiwanese population, we screened 121 normal controls, 213 unrelated subjects with type 2 diabetes, and 107 unrelated subjects with essential hypertension by use of polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP). None of the Taiwanese subjects recruited in the study had this receptor mutation. Our results demonstrate a strong genetic heterogeneity among the ethnic group and suggest that the Gly40Ser mutation of the glucagon receptor gene plays little role, if any, in the pathogenesis of type 2 diabetes and essential hypertension in the Taiwanese population."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10090412-0#43#60#gene2642","span":{"begin":43,"end":60},"obj":"gene2642"},{"id":"10090412-0#86#101#diseaseC0011860","span":{"begin":86,"end":101},"obj":"diseaseC0011860"},{"id":"10090412-0#105#127#diseaseC0085580","span":{"begin":105,"end":127},"obj":"diseaseC0085580"}],"relations":[{"id":"43#60#gene264286#101#diseaseC0011860","pred":"associated_with","subj":"10090412-0#43#60#gene2642","obj":"10090412-0#86#101#diseaseC0011860"},{"id":"43#60#gene2642105#127#diseaseC0085580","pred":"associated_with","subj":"10090412-0#43#60#gene2642","obj":"10090412-0#105#127#diseaseC0085580"}],"text":"Screening for the Gly40Ser mutation in the glucagon receptor gene among patients with type 2 diabetes or essential hypertension in Taiwan.\nAs a major counterregulatory hormone of insulin, glucagon plays an important role in regulating glucose homeostasis through its binding to the glucagon receptor. Recently a missense mutation in the glucagon-receptor gene (Gly40Ser) was found to be associated with type 2 diabetes in France and Sardinia, with a frequency as high as 4.6% and 8.3%, respectively. This mutation was also found to be associated with essential hypertension in the white population with a frequency of 5.4%. To investigate the role of this mutation in the pathogenesis of type 2 diabetes and essential hypertension in Taiwanese population, we screened 121 normal controls, 213 unrelated subjects with type 2 diabetes, and 107 unrelated subjects with essential hypertension by use of polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP). None of the Taiwanese subjects recruited in the study had this receptor mutation. Our results demonstrate a strong genetic heterogeneity among the ethnic group and suggest that the Gly40Ser mutation of the glucagon receptor gene plays little role, if any, in the pathogenesis of type 2 diabetes and essential hypertension in the Taiwanese population."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":43,"end":60},"obj":"gene:2642"},{"id":"T1","span":{"begin":86,"end":101},"obj":"disease:C0011860"},{"id":"T2","span":{"begin":43,"end":60},"obj":"gene:2642"},{"id":"T3","span":{"begin":105,"end":127},"obj":"disease:C0085580"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Screening for the Gly40Ser mutation in the glucagon receptor gene among patients with type 2 diabetes or essential hypertension in Taiwan.\nAs a major counterregulatory hormone of insulin, glucagon plays an important role in regulating glucose homeostasis through its binding to the glucagon receptor. Recently a missense mutation in the glucagon-receptor gene (Gly40Ser) was found to be associated with type 2 diabetes in France and Sardinia, with a frequency as high as 4.6% and 8.3%, respectively. This mutation was also found to be associated with essential hypertension in the white population with a frequency of 5.4%. To investigate the role of this mutation in the pathogenesis of type 2 diabetes and essential hypertension in Taiwanese population, we screened 121 normal controls, 213 unrelated subjects with type 2 diabetes, and 107 unrelated subjects with essential hypertension by use of polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP). None of the Taiwanese subjects recruited in the study had this receptor mutation. Our results demonstrate a strong genetic heterogeneity among the ethnic group and suggest that the Gly40Ser mutation of the glucagon receptor gene plays little role, if any, in the pathogenesis of type 2 diabetes and essential hypertension in the Taiwanese population."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":561,"end":573},"obj":"HP_0000822"},{"id":"T2","span":{"begin":718,"end":730},"obj":"HP_0000822"},{"id":"T3","span":{"begin":876,"end":888},"obj":"HP_0000822"},{"id":"T4","span":{"begin":1287,"end":1299},"obj":"HP_0000822"}],"text":"Screening for the Gly40Ser mutation in the glucagon receptor gene among patients with type 2 diabetes or essential hypertension in Taiwan.\nAs a major counterregulatory hormone of insulin, glucagon plays an important role in regulating glucose homeostasis through its binding to the glucagon receptor. Recently a missense mutation in the glucagon-receptor gene (Gly40Ser) was found to be associated with type 2 diabetes in France and Sardinia, with a frequency as high as 4.6% and 8.3%, respectively. This mutation was also found to be associated with essential hypertension in the white population with a frequency of 5.4%. To investigate the role of this mutation in the pathogenesis of type 2 diabetes and essential hypertension in Taiwanese population, we screened 121 normal controls, 213 unrelated subjects with type 2 diabetes, and 107 unrelated subjects with essential hypertension by use of polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP). None of the Taiwanese subjects recruited in the study had this receptor mutation. Our results demonstrate a strong genetic heterogeneity among the ethnic group and suggest that the Gly40Ser mutation of the glucagon receptor gene plays little role, if any, in the pathogenesis of type 2 diabetes and essential hypertension in the Taiwanese population."}