Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts Alexander G. Bick, Jason Flannick, Kaoru Ito, Susan Cheng, Ramachandran S.

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Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts Alexander G. Bick, Jason Flannick, Kaoru Ito, Susan Cheng, Ramachandran S. Vasan, Michael G. Parfenov, Daniel S. Herman, Steven R. DePalma, Namrata Gupta, Stacey B. Gabriel, Birgit H. Funke, Heidi L. Rehm, Emelia J. Benjamin, Jayashri Aragam, Herman A. Taylor, Ervin R. Fox, Christopher Newton-Cheh, Sekar Kathiresan, Christopher J. O’Donnell, James G. Wilson, David M. Altshuler, Joel N. Hirschhorn, J.G. Seidman, Christine Seidman The American Journal of Human Genetics Volume 91, Issue 3, Pages 513-519 (September 2012) DOI: 10.1016/j.ajhg.2012.07.017 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Stratified Framingham Cardiovascular Phenotypes (A) Longitudinal regression of LVWT scaled to height over time stratified by genetic risk only (defined by one or more sarcomere variants in the absence of physiological risk factors), presence of two or more physiological risk factors (hyperlipidemia, hypertension, obesity, or diabetes), or the combination of genetic and physiologic risk factors. The inset shows a bar graph of regression line slopes, with standard deviations. (B) Longitudinal regression of left ventricular diastolic diameter (LVDD) scaled to height, stratified as above. A statistically significant decline (p < 0.05) is observed between the slope of individuals with and without genetic risk factors in the absence of physiologic risk factors. (C) Kaplan-Meier curves showing age of first adverse cardiovascular event, stratified as described above. Increased risk for first adverse cardiovascular event conferred by genetic risk factor is significant (p < .01). The American Journal of Human Genetics 2012 91, 513-519DOI: (10.1016/j.ajhg.2012.07.017) Copyright © 2012 The American Society of Human Genetics Terms and Conditions