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Genetics of human cardiovascular disease |
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| Authors: | Kathiresan Sekar Srivastava Deepak |
| Institution: | 1 Center for Human Genetic Research and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA 02114, USA 2 Department of Medicine, Harvard Medical School, Boston, MA 02115, USA 3 Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA 4 Gladstone Institute of Cardiovascular Disease, San Francisco, CA, 94158, USA 5 Departments of Pediatrics and Biochemistry & Biophysics, University of California, San Francisco, San Francisco, CA 94158, USA |
| Abstract: | Cardiovascular disease encompasses a range of conditions extending from myocardial infarction to congenital heart disease, most of which are heritable. Enormous effort has been invested in understanding the genes and specific DNA sequence variants that are responsible for this heritability. Here, we review the lessons learned for monogenic and common, complex forms of cardiovascular disease. We also discuss key challenges that remain for gene discovery and for moving from genomic localization to mechanistic insights, with an emphasis on the impact of next-generation sequencing and the use of pluripotent human cells to understand the mechanism by which genetic variation contributes to disease. |
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