Pregled bibliografske jedinice broj: 734542
Genome-wide association study of cardiac structure and systolic function in African Americans : the Candidate Gene Association Resource (CARe) study
Genome-wide association study of cardiac structure and systolic function in African Americans : the Candidate Gene Association Resource (CARe) study // Circulation. Cardiovascular genetics, 6 (2013), 1; 37-46 doi:10.1161/CIRCGENETICS.111.962365 (međunarodna recenzija, članak, znanstveni)
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Naslov
Genome-wide association study of cardiac structure and systolic function in African Americans : the Candidate Gene Association Resource (CARe) study
Autori
Fox, E. ; Musani S.K. ; Barbalić, Maja ; Lin, H. ; Yu, B. ; Ogunyankin, K.O. ; Smith, N.L. ; Kutlar, A. ; Glazer, N.L. ; Post, W.S. ; Paltoo, D.N. ; Dries, D.L. ; Farlow, D.N. ; Duarte, C.W. ; Kardia, S.L. ; Meyers, K.J. ; Sun, Y.V. ; Arnett, D.K. ; Patki, A.A. ; Sha, J, ; Cui, X. ; Samdarshi, T, E, ; Penman, A.D. ; Bibbins-Domingo, K. ; Bůžková, P. ; Benjamin, E.J. ; Bluemke, D.A. ; Morrison A.C. ; Heiss, G. ; Carr, J.J. ; Tracy, R.P. ; Mosley, T.H. ; Taylor, H.A. ; Psaty, B.M. ; Heckbert, S.R. ; Cappola, T.P. ; Vasan, R.S.
Izvornik
Circulation. Cardiovascular genetics (1942-325X) 6
(2013), 1;
37-46
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
echocardiography; ethnic; genome-wide association studies; Left atrium genetics; left ventricular mass genetics
Sažetak
Using data from 4 community-based cohorts of African Americans, we tested the association between genome-wide markers (single-nucleotide polymorphisms) and cardiac phenotypes in the Candidate-gene Association Resource study. Among 6765 African Americans, we related age, sex, height, and weight-adjusted residuals for 9 cardiac phenotypes (assessed by echocardiogram or magnetic resonance imaging) to 2.5 million single-nucleotide polymorphisms genotyped using Genome-wide Affymetrix Human SNP Array 6.0 (Affy6.0) and the remainder imputed. Within the cohort, genome-wide association analysis was conducted, followed by meta-analysis across cohorts using inverse variance weights (genome-wide significance threshold=4.0 ×10(-7)). Supplementary pathway analysis was performed. We attempted replication in 3 smaller cohorts of African ancestry and tested lookups in 1 consortium of European ancestry (EchoGEN). Across the 9 phenotypes, variants in 4 genetic loci reached genome-wide significance: rs4552931 in UBE2V2 (P=1.43×10(-7)) for left ventricular mass, rs7213314 in WIPI1 (P=1.68×10(-7)) for left ventricular internal diastolic diameter, rs1571099 in PPAPDC1A (P=2.57×10(-8)) for interventricular septal wall thickness, and rs9530176 in KLF5 (P=4.02×10(-7)) for ejection fraction. Associated variants were enriched in 3 signaling pathways involved in cardiac remodeling. None of the 4 loci replicated in cohorts of African ancestry was confirmed in lookups in EchoGEN. In the largest genome-wide association study of cardiac structure and function to date in African Americans, we identified 4 genetic loci related to left ventricular mass, interventricular septal wall thickness, left ventricular internal diastolic diameter, and ejection fraction, which reached genome-wide significance. Replication results suggest that these loci may be unique to individuals of African ancestry. Additional large-scale studies are warranted for these complex phenotypes.
Izvorni jezik
Engleski
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Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE