Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.

ABSTRACT:

Objective

Wolfram syndrome 1 (WFS1) single nucleotide polymorphisms (SNPs) are associated with risk of type 2 diabetes. In this study we aimed to refine this association and investigate the role of low-frequency WFS1 variants in type 2 diabetes risk.

Research design and methods

For fine-mapping, we sequenced WFS1 exons, splice junctions, and conserved noncoding sequences in samples from 24 type 2 diabetic case and 68 control subjects, selected tagging SNPs, and genotyped these in 959 U.K. type 2 diabetic case and 1,386 control subjects. The same genomic regions were sequenced in samples from 1,235 type 2 diabetic case and 1,668 control subjects to compare the frequency of rarer variants between case and control subjects.

Results

Of 31 tagging SNPs, the strongest assoc

SUBMITTER: Fawcett KA 

PROVIDER: S-EPMC2828659 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature