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

Nathan E. Wineinger, Amit Patki, Kristin J. Meyers, Ulrich Broeckel, Charles C. Gu, Dc Rao, Richard B. Devereux, Donna K. Arnett, Hemant K. Tiwari

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


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.

Original languageEnglish
Article number4
JournalBMC Medical Genomics
StatePublished - 2011

Bibliographical note

Funding Information:
Phenotypic data was obtained on 1,086 self-reported African American family members and individuals enrolled in the HyperGEN study [23]. HyperGEN is one of four Family Blood Pressure Program networks supported by the National Heart, Lung, and Blood Institute (NHLBI) to identify genetic contributors to hypertension. Subjects were recruited from centers located in Birmingham, AL and Forsyth County, NC. In the first recruitment phase of the HyperGEN study, hypertensive sibships eligible for recruitment consisted of probands with onset of hypertension by age 60 and one or more hypertensive siblings who were willing to participate in the study. In the second phase, the offspring of the hypertensive siblings were recruited. Hypertension was defined as an average systolic blood pressure ≥ 140 mm Hg or an average diastolic blood pressure ≥ 90 mm Hg during at least two evaluations, or receiving medical treatment for hypertension.

Funding Information:
This study was supported in part by the Marie and Emmett Carmichael Scholarship, the NIH grants R01HL055673 and T32HL079888, and the Clinical and Translation Science Award program NIH grant 1UL1RR02011. The opinions expressed herein are those of the authors and not necessarily those of the NIH or any organization with which the authors are affiliated. This study was approved by the Institutional Review Board (IRB) and all subjects provided informed consent.

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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