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.

Journal article

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, the role of low frequency genetic variants (minor allele frequency 0.1-5%...

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Authors: Edghill, E; Khamis, A; Weedon, M; Walker, M; Hitman, G

• Publication status: Published
• Journal: Diabetic medicine : a journal of the British Diabetic Association
• Volume: 28
• Issue: 6
• Pages: 681-684
• Publication date: 2011-06-01
• DOI: 10.1111/j.1464-5491.2011.03269.x
• EISSN: 1464-5491
• ISSN: 0742-3071
• Language: English
• Keywords: Case-Control Studies; Trans-Activators; Adolescent; Young Adult; Polymorphism, Single Nucleotide; Homeodomain Proteins; Humans; Diabetes Mellitus, Type 2; Adult; Genome-Wide Association Study; Middle Aged; Sequence Analysis, DNA; Mutation; European Continental Ancestry Group; Great Britain; Female; Male