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Trends Genet. 2009 Sep;25(9):387-94. doi: 10.1016/j.tig.2009.07.007. Epub 2009 Aug 26.

Understanding cardiovascular disease through the lens of genome-wide association studies.

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  • 1Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.


The past few years have seen significant advances in the identification of genetic factors that contribute to complex disease. Progress in cardiovascular diseases (CVD) has been particularly impressive, with genome-wide association studies (GWAS) leading to the identification of approximately 160 loci associated with CVD and its risk factors, many of which implicate new biological pathways. Here we focus on our growing understanding of the genetic contribution to CVD, examining the gene variants that increase the risk of particular CVD events and those underlying traditional CVD risk factors. Although GWAS face several technical challenges, including the potential for both false-positive and false-negative findings, they are starting to provide a unique view of the genetic architecture of a common disease.

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