Genome-wide association studies identify new targets in cardiovascular disease

Sci Transl Med. 2010 Sep 8;2(48):48ps46. doi: 10.1126/scitranslmed.3001557.

Abstract

The prevalence of cardiovascular disease (CVD) continues to increase worldwide, highlighting the need for new therapeutic strategies. A recent meta-analysis of genome-wide association studies (GWASs) of over 100,000 individuals published in Nature identified 59 new loci associated with lipid traits; of these, a locus on chromosome 1p13 was most strongly associated with low-density lipoprotein cholesterol (LDL-C) levels. An accompanying study in Nature identified SORT1 as the causal gene at the 1p13 locus and showed that increased expression of sortilin-1 protein in liver was associated with lower LDL-C levels and a reduced risk of myocardial infarction. Together, these studies provide strong validation of the utility of GWASs in identifying biological pathways relevant to CVD pathogenesis and perhaps treatment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Vesicular Transport / genetics
  • Cardiovascular Diseases / genetics*
  • Cardiovascular Diseases / physiopathology
  • Genetic Predisposition to Disease
  • Genome, Human
  • Genome-Wide Association Study*
  • Humans
  • Lipids / genetics
  • Polymorphism, Single Nucleotide

Substances

  • Adaptor Proteins, Vesicular Transport
  • Lipids
  • sortilin