PerspectiveCardiovascular Disease

Genome-Wide Association Studies Identify New Targets in Cardiovascular Disease

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Science Translational Medicine  08 Sep 2010:
Vol. 2, Issue 48, pp. 48ps46
DOI: 10.1126/scitranslmed.3001557

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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.


  • Citation: A. C. Calkin, P. Tontonoz, Genome-wide association studies identify new targets in cardiovascular disease. Sci. Transl. Med. 2, 48ps46 (2010).

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