Open Access Research article

Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study

Nathan E Wineinger1*, Amit Patki1, Kristin J Meyers2, Ulrich Broeckel3, Charles C Gu4, DC Rao4, Richard B Devereux5, Donna K Arnett6 and Hemant K Tiwari1

Author Affiliations

1 Department of Biostatistics, University of Alabama at Birmingham, Birmingham, AL, USA

2 Department of Population Health Sciences, University of Wisconsin-Madison, Madison, WI, USA

3 Department of Pediatrics, Medical College of Wisconsin, Milwaulkee, WI, USA

4 Division of Biostatistics, Washington University, St. Louis, MO, USA

5 Division of Cardiology, Weill Cornell Medical College, New York, NY, USA

6 Department of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA

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BMC Medical Genomics 2011, 4:4  doi:10.1186/1755-8794-4-4

Published: 11 January 2011



Aortic root diameter is a clinically relevant trait due to its known relationship with the pathogenesis of aortic regurgitation and risk for aortic dissection. African Americans are an understudied population despite a particularly high burden of cardiovascular diseases. We report a genome-wide association study on aortic root diameter among African Americans enrolled in the HyperGEN study. We invoked a two-stage, mixed model procedure to jointly identify SNP allele and copy number variation effects.


Results suggest novel genetic contributors along a large region between the CRCP and KCTD7 genes on chromosome 7 (p = 4.26 × 10-7); and the SIRPA and PDYN genes on chromosome 20 (p = 3.28 × 10-8).


The regions we discovered are candidates for future studies on cardiovascular outcomes, particularly in African Americans. The methods we employed can also provide an outline for genetic researchers interested in jointly testing SNP and CNV effects and/or applying mixed model procedures on a genome-wide scale.