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
Edghill, EL; Khamis, A; Weedon, Michael N.; et al.Walker, M; Hitman, Graham A.; McCarthy, MI; Owen, KR; Ellard, Sian; Hattersley, Andrew T.; Frayling, Timothy M.
Date: 1 June 2011
Journal
Diabetic Medicine
Publisher
Wiley-Blackwell
Publisher DOI
Related links
Abstract
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 ...
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, the role of low frequency genetic variants (minor allele frequency 0.1-5%) in Type 2 diabetes is not known. The aim of this study was to assess the role of low frequency PDX1 (also called IPF1) variants in Type 2 diabetes.
Institute of Biomedical & Clinical Science
Collections of Former Colleges
Item views 0
Full item downloads 0