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- Title
SREBF-1 gene polymorphisms are associated with obesity and type 2 diabetes in French obese and diabetic cohorts.
- Authors
Eberlé, Delphine; Clément, Karine; Meyre, David; Sahbatou, Mourad; Vaxillaire, Martine; Le Gall, Annie; Ferré, Pascal; Basdevant, Arnaud; Froguel, Philippe; Foufelle, Fabienne; Eberlé, Delphine; Clément, Karine; Ferré, Pascal
- Abstract
Sterol regulatory element-binding protein (SREBP)-1 transcription factors play a central role in energy homeostasis by promoting glycolysis, lipogenesis, and adipogenesis. The sterol regulatory element-binding protein gene (SREBF)-1 is a good candidate gene for obesity and obesity-related metabolic traits such as type 2 diabetes and dyslipidemia. The SREBF-1 molecular screening of 40 unrelated obese patients by PCR/single-strand conformation polymorphism revealed 19 single nucleotide polymorphisms (SNPs). Six SNPs were genotyped for an association study in large French obese and nonobese cohorts. Case-control studies using two independent nonobese cohorts indicated that SNP17 (54G/C, exon 18c) is associated with morbid obesity (odds ratio 1.5, P = 0.006 and P = 0.02, respectively). SNP3 (-150G/A, exon 1a), SNP5 (-36delG, exon 1a), and SNP17 are found in high linkage disequilibrium (D' > 0.8). The haplotype including wild-type alleles of these SNPs (C/G/G/T/C/G, HAP2) is identified as a risk factor for morbid obesity (P = 0.003). In the obese group, SNP3, SNP5, and SNP17 are associated with male-specific hypertriglyceridemia (P = 0.07, P = 0.01, and P = 0.05, respectively). SNP17 is also associated with type 2 diabetes (P = 0.03) and increased prevalence of nephropathy (P = 0.028) in a diabetic cohort. Our results indicate a role of the SREBF-1 gene in genetic predisposition of metabolic diseases such as obesity, type 2 diabetes, and dyslipidemia.
- Subjects
FRANCE; DIABETES; PEOPLE with diabetes; OBESITY; CARBOHYDRATE intolerance; NUTRITION disorders; HOMEOSTASIS; TYPE 2 diabetes; TRANSCRIPTION factors; COMPARATIVE studies; GENES; GENETIC polymorphisms; HYPERLIPIDEMIA; LONGITUDINAL method; RESEARCH methodology; MEDICAL cooperation; PROTEINS; RESEARCH; DNA-binding proteins; EVALUATION research
- Publication
Diabetes, 2004, Vol 53, Issue 8, p2153
- ISSN
0012-1797
- Publication type
journal article
- DOI
10.2337/diabetes.53.8.2153