Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated

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 ou...

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Bibliographic Details
Published in:Human molecular genetics 2019-11, Vol.28 (R2), p.R151-R161
Main Authors: Cabrera, Claudia P, Ng, Fu Liang, Nicholls, Hannah L, Gupta, Ajay, Barnes, Michael R, Munroe, Patricia B, Caulfield, Mark J
Format: Article
Language:English
Subjects:
Animals
Blood Pressure - genetics
Gene Ontology
Genetic Loci
Genetic Pleiotropy
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Hypertension - genetics
Invited Review
Phenotype
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Risk Factors
Software
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Summary: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.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/ddz197