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

Citation
T. Salonen, Jukka et al., Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium, American journal of human genetics , 81(2), 2007, pp. 338-345
ISSN journal
00029297
Volume
81
Issue
2
Year of publication
2007
Pages
338 - 345
Database
ACNP
SICI code
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.