Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.
Salonen JT,
Uimari P,
Aalto JM,
Pirskanen M,
Kaikkonen J,
Todorova B,
Hyppönen J,
Korhonen VP,
Asikainen J,
Devine C,
Tuomainen TP,
Luedemann J,
Nauck M,
Kerner W,
Stephens RH,
New JP,
Ollier WE,
Gibson JM,
Payton A,
Horan MA,
Pendleton N,
Mahoney W,
Meyre D,
Delplanque J,
Froguel P,
Luzzatto O,
Yakir B,
Darvasi A.
Oy Jurilab, and Research Institute of Public Health, University of Kuopio, Kuopio, Finland, and Hope Hospital, Salford, UK.
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.
PMID: 17668382 [PubMed - indexed for MEDLINE]
PMCID: PMC1950819