Article
A role for coding functional variants in HNF4A in type 2 diabetes susceptibility.
Diabetologia - 1 Jan 2011
Jafar-Mohammadi B, Groves C J, Gjesing A P, Herrera B M, Winckler W, Stringham H M, Morris A P, Lauritzen T, Doney A S F, Morris A D, Weedon M N, Swift A J, Kuusisto J, Laakso M, Altshuler D, Hattersley A T, Collins F S, Boehnke M, Hansen T, Pedersen O, Palmer C N A, Frayling T M, Gloyn A L, McCarthy M I
Abstract excerpt
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...
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