Mutation screening of the urocortin gene: identification of new single nucleotide polymorphisms and association studies with obesity in French Caucasians.

Details

Serval ID
serval:BIB_EB8ED94626F0
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mutation screening of the urocortin gene: identification of new single nucleotide polymorphisms and association studies with obesity in French Caucasians.
Journal
Journal of Clinical Endocrinology and Metabolism
Author(s)
Delplanque J., Vasseur F., Durand E., Abderrahmani A., Dina C., Waeber G., Guy-Grand B., Clement K., Weill J., Boutin P., Froguel P.
ISSN
0021-972X
Publication state
Published
Issued date
2002
Peer-reviewed
Oui
Volume
87
Number
2
Pages
867-869
Language
english
Abstract
A linkage between obesity-related phenotypes and the 2p21-23 locus has been reported previously. The urocortin (UCN) gene resides at this interval, and its protein decreases appetite behavior, suggesting that UCN may be a candidate gene for susceptibility to obesity. We localized the UCN gene by radiation hybrid mapping, and the surrounding markers were genotyped in a collection of French families. Evidence for linkage was shown between the marker D2S165 and leptin levels (LOD score, 1.34; P = 0.006) and between D2S2247 and the z-score of body mass index (LOD score, 1.829; P = 0.0019). The gene was screened for SNPs in 96 obese patients. Four new variants were established. Two single nucleotide polymorphisms were located in the promoter (-535 A-->G, -286 G-->A), one in intron 1 (+31 C-->G), and one in the 3'-untranslated region (+34 C-->T). Association studies in cohorts of 722 unrelated obese and 381 control subjects and transmission disequilibrium tests, performed for the two frequent promoter polymorphisms, in 120 families (894 individuals) showed that no association was present between these variants and obesity, obesity-related phenotypes, and diabetes. Thus, our analyses of the genetic variations of the UCN gene suggest that, at least in French Caucasians, they do not represent a major cause of obesity.
Keywords
Adult, Aged, Base Sequence, Chromosomes, Human, Pair 2, Corticotropin-Releasing Hormone, European Continental Ancestry Group, Female, France, Gene Frequency, Genetic Screening, Humans, Male, Middle Aged, Mutation, Obesity, Polymorphism, Genetic, Quantitative Trait, Heritable, Urocortins
Pubmed
Web of science
Open Access
Yes
Create date
17/11/2008 8:57
Last modification date
20/08/2019 16:13
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