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

Science. 2007 Jun 1;316(5829):1331-6. doi: 10.1126/science.1142358. Epub 2007 Apr 26.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Aged
  • Alleles
  • Blood Glucose / analysis
  • Case-Control Studies
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9 / genetics
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease*
  • Genome, Human*
  • Genotype
  • Haplotypes
  • Humans
  • Insulin Resistance / genetics
  • Insulin-Like Growth Factor Binding Proteins / genetics
  • Introns
  • Male
  • Meta-Analysis as Topic
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Quantitative Trait, Heritable
  • Triglycerides / blood*

Substances

  • Adaptor Proteins, Signal Transducing
  • Blood Glucose
  • GCKR protein, human
  • Genetic Markers
  • Insulin-Like Growth Factor Binding Proteins
  • Triglycerides