Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. BMC Med Genomics 2011 Jan 11;4:4
Date
01/13/2011Pubmed ID
21223598Pubmed Central ID
PMC3027088DOI
10.1186/1755-8794-4-4Scopus ID
2-s2.0-78651085347 (requires institutional sign-in at Scopus site) 11 CitationsAbstract
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 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.
Author List
Wineinger NE, Patki A, Meyers KJ, Broeckel U, Gu CC, Rao DC, Devereux RB, Arnett DK, Tiwari HKAuthor
Ulrich Broeckel MD Chief, Center Associate Director, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultAlleles
Aorta
DNA Copy Number Variations
Female
Genome
Genome-Wide Association Study
Humans
Hypertension
Male
Middle Aged
Polymorphism, Single Nucleotide