Naturally occurring mutations in the melanocortin receptor 3 gene are not associated with type 2 diabetes mellitus in French Caucasians
| Autor: | Hani, E. H., Dupont, Samuel, Durand, E., Dina, C., Gallina, Sophie, Gantz, I., Froguel, P. |
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| Přispěvatelé: | Institut de biologie de Lille - UMS 3702 (IBL), Université de Lille-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Centre National de la Recherche Scientifique (CNRS), University of Michigan Medical School [Ann Arbor], University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System, This work was supported by grants from the Centre National de la Recherche Scientifique and the Région Nord-Pas de Calais., We thank type 2 diabetic patient volunteers and their families for their participation in the study. We are indebted to P. Gallina for his valuable efforts in the recruitment of diabetic families and their members for the studies, and to L. Zekiri and M. Caudrelier for the secretarial assistance., Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Université de Lille-Centre National de la Recherche Scientifique (CNRS) |
| Rok vydání: | 2001 |
| Předmět: |
Adult
Male MESH: Mutation MESH: Base Sequence Linkage Disequilibrium White People MESH: Variation (Genetics) MESH: Receptor Melanocortin Type 3 Gene Frequency MESH: Gene Frequency Humans Alleles MESH: Humans MESH: Middle Aged Base Sequence MESH: Alleles Genetic Variation MESH: Adult MESH: European Continental Ancestry Group [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism Middle Aged MESH: Male MESH: France MESH: Linkage Disequilibrium [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Diabetes Mellitus Type 2 Receptors Corticotropin MESH: Receptors Corticotropin Mutation Female France MESH: Female MESH: Diabetes Mellitus Type 2 Receptor Melanocortin Type 3 |
| Zdroj: | Journal of Clinical Endocrinology and Metabolism Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2001, 86 (6), pp.2895-8. ⟨10.1210/jcem.86.6.7589⟩ Journal of Clinical Endocrinology and Metabolism, 2001, 86 (6), pp.2895-8. ⟨10.1210/jcem.86.6.7589⟩ |
| ISSN: | 0021-972X 1945-7197 |
| Popis: | Familial genetic studies of type 2 diabetes (T2DM) of different human populations, including the French Caucasians, suggested evidence for linkage of T2DM and human chromosome 20q13, a region where maps the melanocortin 3 receptor gene (MC3R). Likewise, its homologous MC4R in human obesity, MC3R gene is also a good candidate for genetic susceptibility to glucose intolerance and T2DM. We therefore undertook a molecular study to assess the role of genetic variations of this gene in a large cohort of French families with T2DM. In these patients, we identified two missense mutations in the MC3R gene: Val(81)Ile and Lys(6)Thr. These two variants, which were in complete linkage disequilibrium, were also present in nondiabetic controls. Based on association and familial linkage disequilibrium tests results, we found that these MC3R gene-coding variants were not associated with diabetes or obesity. These variants were found, however, marginally associated with insulin and glucose levels during oral glucose tolerance testing in normoglycemic subjects. Overall, the present study provides no evidence for a major role of the MC3R coding mutations underlying the genetic linkages of T2DM and the MC3R gene region on chromosome 20q13 in T2DM families from France and other geographical origins. |
| Databáze: | OpenAIRE |
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