Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

R Saxena, BF Voight, V Lyssenko, NP Burtt… - Science, 2007 - science.org
R Saxena, BF Voight, V Lyssenko, NP Burtt, PIW de Bakker, H Chen, JJ Roix, S Kathiresan…
Science, 2007science.org
New strategies for prevention and treatment of type 2 diabetes (T2D) require improved
insight into disease etiology. We analyzed 386,731 common single-nucleotide
polymorphisms (SNPs) in 1464 patients with T2D and 1467 matched controls, each
characterized for measures of glucose metabolism, lipids, obesity, and blood pressure. With
collaborators (FUSION and WTCCC/UKT2D), we identified and confirmed three loci
associated with T2D—in a noncoding region near CDKN2A and CDKN2B, in an intron of …
New strategies for prevention and treatment of type 2 diabetes (T2D) require improved insight into disease etiology. We analyzed 386,731 common single-nucleotide polymorphisms (SNPs) in 1464 patients with T2D and 1467 matched controls, each characterized for measures of glucose metabolism, lipids, obesity, and blood pressure. With collaborators (FUSION and WTCCC/UKT2D), we identified and confirmed three loci associated with T2D—in a noncoding region near CDKN2A and CDKN2B, in an intron of IGF2BP2, and an intron of CDKAL1—and replicated associations near HHEX and in SLC30A8 found by a recent whole-genome association study. We identified and confirmed association of a SNP in an intron of glucokinase regulatory protein (GCKR) with serum triglycerides. The discovery of associated variants in unsuspected genes and outside coding regions illustrates the ability of genome-wide association studies to provide potentially important clues to the pathogenesis of common diseases.
AAAS