Report an error   
Advanced Search

The genetics of blood pressure regulation and its target organs from association studies in342,415 individuals.


Related Institution

Department of Anthropology, Sociology and History, School of Arts and Sciences - University of San Carlos, Talamban Campus, Cebu City, Philippines - University of San Carlos

Publication Information

Publication Type
Publication Sub Type
Journal Article, Original
Nature Genetics
Publication Date


To dissect the genetic architecture of blood pressure and assess effects on target-organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry and genotypes from an additional 140,886 individuals were used for validation.

We identified 66 blood pressure loci, of which 17 were novel and 15 harbored multiple distinct association signals. The 66 index SNPs were enriched for

cis-regulatory elements, particularly in vascular endothelial cells, consistent with a primary role in blood pressure control through modulation of vascular tone across multiple tissues. The 66 index SNPs combined in a risk score showed comparable effects in 64,421 individuals of non-European descent. The 66-SNP blood pressure risk score was significantly associated with target-organ damage in multiple tissues, with minor effects in the kidney. Our findings expand current knowledge of blood pressure pathways and highlight tissues beyond the classic renal system in blood pressure regulation.


1. Johnson, T, et al. . "Blood pressure Loci Identified with a Gene-Centric Array" The American Journal of Human Genetics 89(2011): 1–13,
2. Newton-Cheh, C, et al. . " Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure" Nature Genetics 2009(41): 348–53, . Retrieved from: http://. [PubMed: 19219041]
3. Franceschini, N, et al. . "Genome-wide association analysis of blood-pressure traits in African- ancestry individuals reveals common associated genes in African and non-African populations" American Journal of Human Genetics 2013(93): 545–54, . Retrieved from: http://[PubMed: 23972371]
4. Ganesh, SK, et al. . "Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations" American Journal of Human Genetics 2014(95): 49–65, . Retrieved from: http://[PubMed: 24975945]

©2021 HERDIN PLUS. All rights reserved.