Absence of the Gly40-ser mutation in the glucagon receptor gene in Japanese subjects with NIDDM

Diabetes Res Clin Pract. 1996 Jul;33(2):71-4. doi: 10.1016/0168-8227(96)01284-3.

Abstract

Recent studies have shown both association and linkage between a Gly40-Ser mutation in the glucagon receptor gene and NIDDM in French patients with familial NIDDM. This mutation was present in heterozygous form in 4.6% of diabetic probands but only 1% of the French population, suggesting that it was an important risk factor in the development of NIDDM. A total of 348 unrelated Japanese subjects (220 with NIDDM, 53 with impaired glucose tolerance (IGT) and 75 normal subjects) were screened for the presence of the Gly40-Ser mutation. Seventy-two percent of the NIDDM patients and 52% of IGT subjects had a positive family history of NIDDM. The Gly40-Ser mutation, which could be readily detected in a positive control subject, was not found in any of the 348 Japanese subjects studied. Thus, the Gly40-Ser mutation does not play an important role in the pathogenesis of NIDDM in Japanese patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Asian People / genetics*
  • Autoradiography
  • Diabetes Mellitus, Type 2 / epidemiology
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / physiopathology
  • Electrophoresis, Polyacrylamide Gel
  • Female
  • Gene Frequency
  • Glucose Intolerance / epidemiology
  • Glucose Intolerance / genetics
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Receptors, Glucagon / genetics*

Substances

  • Receptors, Glucagon