Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium

Am J Hum Genet. 2007 Aug;81(2):338-45. doi: 10.1086/520599. Epub 2007 Jun 26.

Abstract

Type 2 diabetes (T2D) is a common, polygenic chronic disease with high heritability. The purpose of this whole-genome association study was to discover novel T2D-associated genes. We genotyped 500 familial cases and 497 controls with >300,000 HapMap-derived tagging single-nucleotide-polymorphism (SNP) markers. When a stringent statistical correction for multiple testing was used, the only significant SNP was at TCF7L2, which has already been discovered and confirmed as a T2D-susceptibility gene. For a replication study, we selected 10 SNPs in six chromosomal regions with the strongest association (singly or as part of a haplotype) for retesting in an independent case-control set including 2,573 T2D cases and 2,776 controls. The most significant replicated result was found at the AHI1-LOC441171 gene region.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adaptor Proteins, Vesicular Transport
  • Case-Control Studies
  • Diabetes Mellitus, Type 2 / genetics*
  • England
  • European Continental Ancestry Group
  • Female
  • Finland
  • Gene Frequency*
  • Genetic Predisposition to Disease
  • Genome, Human
  • Germany
  • Humans
  • Israel
  • Jews / genetics
  • Linkage Disequilibrium*
  • Male
  • Polymorphism, Single Nucleotide*

Substances

  • AHI1 protein, human
  • Adaptor Proteins, Signal Transducing
  • Adaptor Proteins, Vesicular Transport

Associated data

  • OMIM/AHI1
  • OMIM/CAPN10
  • OMIM/KCNJ11
  • OMIM/MYO10
  • OMIM/T2D
  • OMIM/TCF7L2