title: Screening for the Gly40Ser mutation in the glucagon receptor gene among patients with type 2 diabetes or essential hypertension in Taiwan.
abstract: As 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.
authors: Department of Internal Medicine, College of Medicine, National Taiwan University, Taipei.
authors: C N
authors: CN
authors: Huang
authors: K C
authors: KC
authors: Lee
authors: H P
authors: HP
authors: Wu
authors: T Y
authors: TY
authors: Tai
authors: B J
authors: BJ
authors: Lin
authors: L M
authors: LM
authors: Chuang
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001786:Blood Glucose / Q000235:genetics; D015992:Body Mass Index; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018027:Receptors, Glucagon / Q000235:genetics*; D013624:Taiwan
chemical_list: D001786:Blood Glucose; D018027:Receptors, Glucagon