ABSENCE OF THE GLY(40)-SER MUTATION IN THE GLUCAGON RECEPTOR GENE IN JAPANESE SUBJECTS WITH NIDDM

Recent studies have shown both association and linkage between a Gly(4 0)-Ser mutation in the glucagon receptor gene and NIDDM in French pati ents with familial NIDDM. This mutation was present in heterozygous fo rm in 4.6% of diabetic probands but only 1% of the French population, suggesting that it was an important risk factor in the bs 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 Gly(40)-Ser mutation. Seventy-two per cent of the NIDDM patients and 52% of IGT subjects had a positive fami ly history of NIDDM, The Gly(40)-Ser mutation, which could be readily detected in a positive control subject, was not found in any of the 34 8 Japanese subjects studied. Thus, the Gly(40)-Ser mutation does not p lay an important role in the pathogenesis of NIDDM in Japanese patient s.