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

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal 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
  • ,
  • C N A Palmer
  • ,
  • T M Frayling
  • ,
  • A L Gloyn
  • ,
  • M I McCarthy
  • ,
  • DIAGRAM Consortium
  • Institute of General Medical Practice
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.
Original languageEnglish
JournalDiabetologia
Volume54
Issue1
Pages (from-to)111-9
Number of pages9
ISSN0012-186X
DOIs
Publication statusPublished - 1 Jan 2011

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