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Titolo:
Naturally occurring mutations in the melanocortin receptor 3 gene are not associated with type 2 diabetes mellitus in French Caucasians
Autore:
Hani, EH; Dupont, S; Durand, E; Dina, C; Gallina, S; Gantz, I; Froguel, P;
Indirizzi:
Inst Pasteur, F-59000 Lille, France Inst Pasteur Lille France F-59000Inst Pasteur, F-59000 Lille, France Lille Inst Biol, Ctr Natl Rech Sci 8090, F-59000 Lille, France Lille Inst Biol Lille France F-59000 ech Sci 8090, F-59000 Lille, France Univ Michigan, Sch Med, Ann Arbor, MI 48109 USA Univ Michigan Ann Arbor MI USA 48109 an, Sch Med, Ann Arbor, MI 48109 USA
Titolo Testata:
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
fascicolo: 6, volume: 86, anno: 2001,
pagine: 2895 - 2898
SICI:
0021-972X(200106)86:6<2895:NOMITM>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
AGOUTI-RELATED PROTEIN; FRAMESHIFT MUTATION; SIB PAIRS; OBESITY; LINKAGE; MICE; IDENTIFICATION; HORMONE; INSULIN; REGION;
Tipo documento:
Editorial Material
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Froguel, P Inst Pasteur, 1 Rue Pr Calmette, F-59000 Lille, France Inst Pasteur 1 Rue Pr Calmette Lille France F-59000 le, France
Citazione:
E.H. Hani et al., "Naturally occurring mutations in the melanocortin receptor 3 gene are not associated with type 2 diabetes mellitus in French Caucasians", J CLIN END, 86(6), 2001, pp. 2895-2898

Abstract

Familial genetic studies of type 2 diabetes (T2DM) of different human populations, including the French Caucasians, suggested evidence for Linkage ofT2DM 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 ofgenetic 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 insulinand 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/09/20 alle ore 13:43:36