Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium Academic Article uri icon

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  • 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.


  • Salonen, Jukka T
  • Uimari, Pekka
  • Aalto, Juha-Matti
  • Pirskanen, Mia
  • Kaikkonen, Jari
  • Todorova, Boryana
  • Hyppönen, Jelena
  • Korhonen, Veli-Pekka
  • Asikainen, Janne
  • Devine, Christopher
  • Tuomainen, Tomi-Pekka
  • Luedemann, Jan
  • Nauck, Matthias
  • Kerner, Wolfgang
  • Stephens, Richard H
  • New, John P
  • Ollier, William E
  • Gibson, J Martin
  • Payton, Antony
  • Horan, Michael A
  • Pendleton, Neil
  • Mahoney, Walt
  • Meyre, David Jean-Claude
  • Delplanque, Jerôme
  • Froguel, Philippe
  • Luzzatto, Oren
  • Yakir, Benjamin
  • Darvasi, Ariel

publication date

  • August 2007

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