A role for coding functional variants in HNF4A in type 2 diabetes susceptibility.

ABSTRACT:

Aims/hypothesis

Rare mutations in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4α (HNF-4A), account for ~5% of cases of MODY and more frequent variants in this gene may be involved in multifactorial forms of diabetes. Two low-frequency, non-synonymous variants in HNF4A (V255M, minor allele frequency [MAF] ~0.1%; T130I, MAF ~3.0%)-known to influence downstream HNF-4A target gene expression-are of interest, but previous type 2 diabetes association reports were inconclusive. We aimed to evaluate the contribution of these variants to type 2 diabetes susceptibility through large-scale association analysis.

Methods

We genotyped both variants in at least 5,745 cases and 14,756 population controls from the UK and Denmark. We also undertook an expanded

SUBMITTER: Jafar-Mohammadi B 

PROVIDER: S-EPMC3119815 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature