A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus
| Autor: | J. Hager, L. Hansen, C. Vaisse, N. Vionnet, A. Philippi, W. Poller, G. Velho, C. Carcassi, L. Contu, C. Julier, F. Cambien, P. Passa, M. Lathrop, W. Kindsvogel, F. Demenais, E. Nishimura, P. Froguel |
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| Rok vydání: | 1995 |
| Předmět: |
Male
medicine.medical_specialty Heterozygote endocrine system diseases Genetic Linkage Biology Glucagon Polymerase Chain Reaction Internal medicine Diabetes mellitus Genetics medicine Receptors Glucagon Missense mutation Humans Point Mutation Receptor Gene DNA Primers Polymorphism Genetic Wild type medicine.disease Pedigree Endocrinology Diabetes Mellitus Type 2 Mutation (genetic algorithm) Female Glucagon receptor Polymorphism Restriction Fragment Length |
| Zdroj: | Nature genetics. 9(3) |
| ISSN: | 1061-4036 |
| Popis: | 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, P0.01). 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. |
| Databáze: | OpenAIRE |
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