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

Salonen, Jukka T; Uimari, Pekka; Aalto, Juha-Matti; Pirskanen, Mia; Kaikkonen, Jari; Todorova, Boryana; Hyppönen, Jelena; Korhonen, Veli-Pekka et al. · Am J Hum Genet · 2007

case_control · Level III

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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.

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