Acetyl-CoA carboxylase beta, encoded by the ACAB gene, plays an important role in the oxidation of fatty acids. The aim of this study was to check the hypothesis that allelic variants of ACACB influence the risk of obesity and type 2 diabetes mellitus.Twenty five tagging single nucleotide polymorphisms (SNPs) capturing common variants of the ACACB gene were selected and analyzed in two cohorts including 1695 postmenopausal women of the general population and in 161 women with severe obesity (BMI >35). In vitro binding of transcription factors was explored by electrophoretic mobility shift assays (EMSA). T alleles at the rs2268388 locus. Highlights: Tag SNPs of the Acetyl-CoA carboxylase beta gene (ACACB) were studied in women. One SNP was significantly associated with morbid obesity. Two SNPs were associated with type 2 diabetes, independently of BMI. EMSA suggested the binding of glucocorticoid receptor and serum response factor. ACACB polymorphisms appear to influence the risk of obesity and type 2 diabetes.
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