Type 2 diabetes whole-genome association study in four populations: The DiaGen consortium

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

    Research output: Contribution to journalArticlepeer-review


    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. © 2007 by The American Society of Human Genetics. All rights reserved.
    Original languageEnglish
    Pages (from-to)338-345
    Number of pages7
    JournalAmerican Journal of Human Genetics
    Issue number2
    Publication statusPublished - Aug 2007


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