No evidence for linkage or for diabetes-associated mutations in the activin type 2B receptor gene (ACVR2B) in French patients with mature-onset diabetes of the young or type 2 diabetes
| Autor: | Corentin Cras-Méneur, Sophie Dupont, Cécile Lecoeur, Raphael Scharfmann, El Habib Hani, Frédérique De Matos, Martine Vaxillaire, Philippe Froguel, Stéphane Lobbens |
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| Přispěvatelé: | Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Pancréas endocrine et diabète de l'enfant, Institut National de la Santé et de la Recherche Médicale (INSERM) |
| Jazyk: | angličtina |
| Rok vydání: | 2001 |
| Předmět: |
Genetic Markers
medicine.medical_specialty MESH: Mutation Genotype Genetic Linkage MESH: Pedigree Endocrinology Diabetes and Metabolism Activin Receptors Type II Single-nucleotide polymorphism Type 2 diabetes Biology MESH: Genetic Markers MESH: Phenotype MESH: Genotype 03 medical and health sciences 0302 clinical medicine Internal medicine Diabetes mellitus MESH: Receptors Growth Factor Internal Medicine medicine Humans Receptors Growth Factor Activin Receptor Type-2A 030304 developmental biology Genetics 0303 health sciences MESH: Humans MESH: Activin Receptors Type II Activin receptor Exons medicine.disease Pedigree MESH: France Endocrinology Phenotype Diabetes Mellitus Type 2 MESH: Lod Score [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Mutation France Lod Score MESH: Exons TCF7L2 MESH: Linkage (Genetics) 030217 neurology & neurosurgery ACVR2B ACVR2A MESH: Diabetes Mellitus Type 2 |
| Zdroj: | Diabetes Diabetes, American Diabetes Association, 2001, 50 (5), pp.1219-21 |
| ISSN: | 0012-1797 |
| Popis: | Activins are members of the transforming growth factor-β superfamily. They have a wide range of biological effects on cell growth and differentiation. For transmembrane signaling, activins bind directly to activin receptor type 2A (ACVR2A) or 2B (ACVR2B). Transgenic and knock-out mice for the ACVR2B gene display various endocrine pancreas-related abnormalities, including islet hypoplasia and glucose intolerance, demonstrating the crucial role of ACVR2B in the regulation of pancreas development. We have thus examined the contribution of this factor to the development of mature-onset diabetes of the young (MODY) and type 2 diabetes. No evidence of linkage at the ACVR2B locus has been detected in MODY families with unknown etiology for diabetes or found in affected sib pairs from families with type 2 diabetes. Mutation screening of the coding sequence in MODY probands and in a family with severe type 2 diabetes, including a case of pancreatic agenesis, showed single nucleotide polymorphisms that did not cosegregate with MODY and were not associated with type 2 diabetes. Our results indicate that ACVR2B does not represent a common cause of either MODY or type 2 diabetes in the French Caucasian population. |
| Databáze: | OpenAIRE |
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