Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated
Author(s)
Type
Journal Article
Abstract
High blood pressure (BP) remains the major heritable and modifiable risk factor for cardiovascular disease. Persistent high BP, or hypertension, is a complex trait with both genetic and environmental interactions. Despite swift advances in genomics, translating new discoveries to further our understanding of the underlying molecular mechanisms remains a challenge. More than 500 loci implicated in the regulation of BP have been revealed by genome-wide association studies (GWAS) in 2018 alone, taking the total number of BP genetic loci to over 1000. Even with the large number of loci now associated to BP, the genetic variance explained by all loci together remains low (~5.7%). These genetic associations have elucidated mechanisms and pathways regulating BP, highlighting potential new therapeutic and drug repurposing targets. A large proportion of the BP loci were discovered and reported simultaneously by multiple research groups, creating a knowledge gap, where the reported loci to date have not been investigated in a harmonious way. Here, we review the BP-associated genetic variants reported across GWAS studies and investigate their potential impact on the biological systems using in silico enrichment analyses for pathways, tissues, gene ontology and genetic pleiotropy.
Date Issued
2019-10-15
Date Acceptance
2019-08-05
Citation
Human Molecular Genetics, 2019, 28 (R2), pp.R151-R161
ISSN
0964-6906
Publisher
Oxford University Press (OUP)
Start Page
R151
End Page
R161
Journal / Book Title
Human Molecular Genetics
Volume
28
Issue
R2
Copyright Statement
© The Author(s) 2019. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com
This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model). This is a pre-copy-editing, author-produced version of an article accepted for publication in Human Molecular Genetics following peer review. The definitive publisher-authenticated version Claudia P Cabrera, Fu Liang Ng, Hannah L Nicholls, Ajay Gupta, Michael R Barnes, Patricia B Munroe, Mark J Caulfield, Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated, Human Molecular Genetics, , ddz197 is available online at: https://doi.org/10.1093/hmg/ddz197
This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model). This is a pre-copy-editing, author-produced version of an article accepted for publication in Human Molecular Genetics following peer review. The definitive publisher-authenticated version Claudia P Cabrera, Fu Liang Ng, Hannah L Nicholls, Ajay Gupta, Michael R Barnes, Patricia B Munroe, Mark J Caulfield, Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated, Human Molecular Genetics, , ddz197 is available online at: https://doi.org/10.1093/hmg/ddz197
Identifier
https://academic.oup.com/hmg/advance-article-abstract/doi/10.1093/hmg/ddz197/5549778?redirectedFrom=fulltext
Subjects
06 Biological Sciences
11 Medical and Health Sciences
Genetics & Heredity
Publication Status
Published
Date Publish Online
2019-08-14