期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 91, 期 3, 页码 513-519出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2012.07.017
关键词
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资金
- National Human Genome Research Institute [U54 HG003067]
- National Heart, Lung and Blood Institute [HL080494-05, N01-HC-95170, N01-HC-95171, N01-HC-95172, N01-HC-25195, 6R01-NS 17950]
- Howard Hughes Medical Institute
- NIH Medical Scientist Training Program fellowship [5T32GM007753-33]
- Ellison Foundation
- National Institute for Minority Health and Health Disparities
- National Institute of Biomedical Imaging and Bioengineering
- Affymetrix, Inc. [N02-HL-6-4278]
- [K99HL107642]
Rare sarcomere protein variants cause dominant hypertrophic and dilated cardiomyopathies. To evaluate whether allelic variants in eight sarcomere genes are associated with cardiac morphology and function in the community, we sequenced 3,600 individuals from the Framingham Heart Study (FHS) and Jackson Heart Study (JHS) cohorts. Out of the total, 11.2% of individuals had one or more rare nonsynonymous sarcomere variants. The prevalence of likely pathogenic sarcomere variants was 0.6%, twice the previous estimates; however, only four of the 22 individuals had clinical manifestations of hypertrophic cardiomyopathy. Rare sarcomere variants were associated with an increased risk for adverse cardiovascular events (hazard ratio: 2.3) in the FHS cohort, suggesting that cardiovascular risk assessment in the general population can benefit from rare variant analysis.
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