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

Research output: Contribution to journalJournal articleResearchpeer-review

B Jafar-Mohammadi, C J Groves, A P Gjesing, B M Herrera, W Winckler, H M Stringham, A P Morris, Torsten Lauritzen, A S F Doney, A D Morris, M N Weedon, A J Swift, J Kuusisto, M Laakso, D Altshuler, A T Hattersley, F S Collins, M Boehnke, T Hansen, O Pedersen & 5 others C N A Palmer, T M Frayling, A L Gloyn, M I McCarthy, DIAGRAM Consortium

Rare mutations in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4a (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.
Original languageEnglish
Issue number1
Pages (from-to)111-9
Number of pages9
Publication statusPublished - Jan 2011

    Research areas

  • Adult, Aged, Diabetes Mellitus, Type 2, Female, Genetic Predisposition to Disease, Genotype, Hepatocyte Nuclear Factor 4, Humans, Male, Middle Aged, Mutation

ID: 45583366