Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population

Diabetes. 2004 Nov;53(11):3002-6. doi: 10.2337/diabetes.53.11.3002.

Abstract

Hepatocyte nuclear factor (HNF)-4alpha is part of a transcription factor network that is key for the development and function of the beta-cell. Rare mutations in the HNF4alpha gene cause maturity-onset diabetes of the young. A number of type 2 diabetes linkage studies have found evidence of linkage to 20q12-13.1 where the HNF4alpha gene is located. Two recent studies have found an association between four common variants of the alternative P2 promoter region and type 2 diabetes. These variants are in strong linkage disequilibrium, and the minor alleles define one common risk haplotype. In both studies, the risk haplotype explained a large proportion of the evidence of linkage to 20q12-13.1. We aimed to assess this haplotype in a U.K. Caucasian study of 5,256 subjects. We typed two single nucleotide polymorphisms tagging the risk haplotype (rs4810424 and rs2144908) and found evidence of association in both case-control and family-based studies; rs4810424 marginally demonstrated the stronger association with an overall estimated odds ratio of 1.15 (95% CI 1.02-1.33) (P = 0.02). The effect of the P2 haplotype on type 2 diabetes risk is less than in the initial studies, probably reflecting that these studies used 20q12-13.1-linked cases. In conclusion, we have replicated the association of the HNF4alpha P2 promoter haplotype with type 2 diabetes in a U.K. Caucasian population where there is no evidence of linkage to 20q.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Chromosomes, Human, Pair 20 / genetics
  • DNA-Binding Proteins / genetics*
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Genetic Carrier Screening
  • Genetic Variation*
  • Genotype
  • Hepatocyte Nuclear Factor 4
  • Humans
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Phosphoproteins / genetics*
  • Promoter Regions, Genetic / genetics*
  • Reference Values
  • Transcription Factors / genetics*
  • United Kingdom

Substances

  • DNA-Binding Proteins
  • HNF4A protein, human
  • Hepatocyte Nuclear Factor 4
  • Phosphoproteins
  • Transcription Factors