期刊
SCIENCE
卷 316, 期 5829, 页码 1331-1336出版社
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1142358
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资金
- NHGRI NIH HHS [U01 HG004171] Funding Source: Medline
- NHLBI NIH HHS [K23-HL083102] Funding Source: Medline
- NIDDK NIH HHS [K23 DK080145-01, F32 DK079466, F32 DK079466-01, K23 DK067288, K23 DK080145, K23 DK65978-04] Funding Source: Medline
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.
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