Article
Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes.
Diabetic medicine : a journal of the British Diabetic Association - 1 Jun 2011
Edghill E L, Khamis A, Weedon M N, Walker M, Hitman G A, McCarthy M I, Owen K R, Ellard S, T Hattersley A, Frayling T M
Abstract excerpt
AIM: Genome-wide association studies have identified >30 common variants associated with Type 2 diabetes (>5% minor allele frequency). These variants have small effects on individual risk and do not account for a large proportion of the heritable component of the disease. Monogenic forms of diabetes are caused by mutations that occur in <1:2000 individuals and follow strict patterns of inheritance. In contrast,...
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