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Nat Genet. 1995 Mar;9(3):299-304.

A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus.

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  • 1CNRS EP 10, INSERM U358, Hôpital Saint-Louis, Paris, France.

Abstract

Non-insulin-dependent diabetes mellitus (NIDDM) affects about 5% of the world population. The disease presents a polygenic mode of inheritance, but mechanisms and genes involved in late-onset NIDDM are largely unknown. We report the association of a single heterozygous Gly to Ser missense mutation in the glucagon receptor gene with late-onset NIDDM. This mutation was highly associated with NIDDM in a pooled set of French and Sardinian patients (chi 2 = 14.4, P = 0.0001) and showed some evidence for linkage to diabetes in 18 sibships from 9 French pedigrees (chi 2 = 6.63, P < 0.01). Receptor binding studies using cultured cells expressing the Gly40Ser mutation demonstrate that this mutation results in a receptor which binds glucagon with a three-fold lower affinity compared to the wild type receptor.

PMID:
7773293
[PubMed - indexed for MEDLINE]
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