Effects of rare and common blood pressure gene variants on essential hypertension: results from the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities studies Journal Article

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Authors: Nguyen, K. D.; Pihur, V.; Ganesh, S. K.; Rakha, A.; Cooper, R. S.; Hunt, S. C.; Freedman, B. I.; Coresh, J; Kao, W. H.; Morrison, A. C.; Boerwinkle, E; Ehret, G. B.; Chakravarti, A
Article Title: Effects of rare and common blood pressure gene variants on essential hypertension: results from the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities studies
Abstract: RATIONALE: Hypertension affects approximately 30% of adults in industrialized countries and is the major risk factor for cardiovascular disease. OBJECTIVE: We sought to study the genetic effect of coding and conserved noncoding variants in syndromic hypertension genes on systolic blood pressure (BP) and diastolic BP to assess their overall impact on essential hypertension. METHODS AND RESULTS: We resequenced 11 genes (AGT, CYP11B1, CYP17A1, HSD11B2, NR3C1, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, and WNK4) in 560 European American (EA) and African American ancestry GenNet participants with extreme systolic BP. We investigated genetic associations of 2535 variants with BP in 19997 EAs and in 6069 African Americans in 3 types of analyses. First, we studied the combined effects of all variants in GenNet. Second, we studied 1000 Genomes imputed polymorphic variants in 9747 EA and 3207 African American Atherosclerosis Risk in Communities subjects. Finally, we genotyped 37 missense and common noncoding variants in 6591 EAs and in 6521 individuals (3659 EA/2862 African American) from the CLUE and Family Blood Pressure Program studies, respectively. None of the variants individually reached significant false-discovery rates
Journal Title: Circulation research
Volume: 112
Issue: 2
ISSN: 1524-4571; 0009-7330
Publisher: Unknown  
Date Published: 2013
Start Page: 318
End Page: 326