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

ABSTRACT:

Background

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

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)).

Conclusions

The regions we discovered are candidates

SUBMITTER: Wineinger NE 

PROVIDER: S-EPMC3027088 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature