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(Arteriosclerosis, Thrombosis, and Vascular Biology. 2002;22:1008.)
© 2002 American Heart Association, Inc.

Atherosclerosis and Lipoproteins

Genetic Influences on Aortic Root Size in American Indians

The Strong Heart Study

Jonathan N. Bella; Jean W. MacCluer; Mary J. Roman; Laura Almasy; Kari E. North; Thomas K. Welty; Elisa T. Lee; Richard R. Fabsitz; Barbara V. Howard; Richard B. Devereux

From Department of Medicine (J.N.B., M.J.R., R.B.D.), Weill Medical College of Cornell University, New York, NY; the Department of Genetics (J.W.M., L.A., K.E.N.), Southwest Foundation for Biomedical Research, San Antonio, Tex; Aberdeen Area Tribal Chairmen’s Health Board (T.K.W.), Rapid City, SD; University of Oklahoma School of Public Health Services (E.T.L.), Oklahoma City; the Division of Epidemiology and Clinical Applications (R.R.F.), National Heart, Lung, and Blood Institute, Bethesda, Md; and Medstar Research Institute (B.V.H.), Washington, DC.

Correspondence to Jonathan N. Bella, MD, Division of Cardiology (12th Floor), Bronx-Lebanon Hospital Center/Albert Einstein College of Medicine, 1650 Grand Concourse, Bronx, NY 10457. E-mail jonnbella{at}earthlink.net Reprint requests to Richard B. Devereux, MD, Division of Cardiology, Box 222, The New York-Presbyterian Hospital, 525 East 68th St; New York, NY 10021. E-mail rbdevere@med.cornell.edu

Abstract— Aortic root dilatation is a major pathophysiological mechanism for aortic regurgitation and predisposes the aortic root to dissection or rupture. However, only a small proportion of the variance of aortic root size can be explained by its known clinical and demographic correlates. The present study was undertaken to determine the heritability of echocardiographically derived aortic root diameter in the American Indian participants in the second Strong Heart Study examination. Echocardiograms were analyzed in 1373 SHS participants who had 1 family member in the cohort. Heritability calculations were performed by using variance component analysis as implemented in SOLAR, a computer analysis program. In a polygenic model, the variables entered and identified as covariates of larger aortic root diameter were older age, male sex, and center (P<0.001), which accounted for 35% of the overall variability of aortic root diameter. After simultaneous adjustment was made for these significant covariates, the proportion of phenotypic variance due to additive genetic contribution or residual heritability (h²) was 0.51 (SE=0.08, P<0.001). Additionally, simultaneous adjustment for height, weight, and systolic and diastolic BPs yielded slightly lower residual h² of aortic root diameter (h²=0.44, SE=0.08, P<0.001), which accounted for 26% of the overall variance of aortic root size. Because center effects were identified as significant covariates in the analyses, h² analyses were performed separately in Arizona, Oklahoma, and North/South Dakota centers, which confirmed that a significant proportion of the phenotypic variance of aortic root diameter is due to additive genetic contribution. Heredity explains a substantial proportion of the variability of aortic root size that is not accounted for by age, sex, body size, and blood pressure. Echocardiographic screening of family members with aortic root dilatation may identify other individuals predisposed to aortic dissection or rupture.

Key Words: genetics • epidemiology • echocardiography • aorta

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