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Cardiovascular Disease

Genome-Wide Association Studies Identify New Targets in Cardiovascular Disease

Science Translational Medicine8 Sep 2010Vol 2, Issue 48p. 48ps46DOI: 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.
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Science Translational Medicine
Volume 2 | Issue 48
September 2010

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Acknowledgments

Funding: A.C.C. is funded by a National Heart Foundation of Australia Overseas Fellowship (O 08M 3934). P.T. is an Investigator of the Howard Hughes Medical Institute. Competing interests: The authors declare that they have no competing interests.

Authors

Affiliations

Anna C. Calkin
Howard Hughes Medical Institute and Department of Pathology and Laboratory Medicine, University of California, Los Angeles, CA 90095, USA.
Peter Tontonoz* [email protected]
Howard Hughes Medical Institute and Department of Pathology and Laboratory Medicine, University of California, Los Angeles, CA 90095, USA.

Notes

*Corresponding author. E-mail: [email protected]

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