A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus.
Nat Genet
; 9(3): 299-304, 1995 Mar.
Article
em En
| MEDLINE
| ID: mdl-7773293
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.
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Base de dados:
MEDLINE
Assunto principal:
Mutação Puntual
/
Receptores de Glucagon
/
Diabetes Mellitus Tipo 2
Tipo de estudo:
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
França