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

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.

• Authors: M Ogata, N Iwasaki, H Ohgawara, S Karibe, Y Omori
• Journal: Diabetes research and clinical practice (Diabetes Res Clin Pract) Vol. 33 Issue 2 Pg. 71-4 (Jul 1996) ISSN: 0168-8227 [Print] Ireland
• PMID: 8879960 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Receptors, Glucagon

Topics

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