Cabrera, CP; Ng, FL; Nicholls, HL; Gupta, A; Barnes, MR; Munroe, PB; Caulfield, MJ
(2019)
Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated.
Hum Mol Genet, 28 (R2).
R151-R161.
ISSN 1460-2083
https://doi.org/10.1093/hmg/ddz197
SGUL Authors: Ng, Fu Liang
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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.
Item Type: | Article | ||||||||||||||||||
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Additional Information: | This is a pre-copyedited, author-produced version of an article accepted for publication in Human Molecular Genetics following peer review. The version of record [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, Volume 28, Issue R2, 15 October 2019, Pages R151–R161 is available online at: https://doi.org/10.1093/hmg/ddz197 | ||||||||||||||||||
Keywords: | Animals, Blood Pressure, Gene Ontology, Genetic Loci, Genetic Pleiotropy, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Hypertension, Phenotype, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Risk Factors, Software, Animals, Humans, Hypertension, Genetic Predisposition to Disease, Risk Factors, Blood Pressure, Phenotype, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Software, Genome-Wide Association Study, Genetic Loci, Genetic Pleiotropy, Gene Ontology, Animals, Blood Pressure, Gene Ontology, Genetic Loci, Genetic Pleiotropy, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Hypertension, Phenotype, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Risk Factors, Software, 06 Biological Sciences, 11 Medical and Health Sciences, Genetics & Heredity | ||||||||||||||||||
SGUL Research Institute / Research Centre: | Academic Structure > Institute of Medical & Biomedical Education (IMBE) | ||||||||||||||||||
Journal or Publication Title: | Hum Mol Genet | ||||||||||||||||||
ISSN: | 1460-2083 | ||||||||||||||||||
Language: | eng | ||||||||||||||||||
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Publisher License: | Publisher's own licence | ||||||||||||||||||
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PubMed ID: | 31411675 | ||||||||||||||||||
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URI: | https://openaccess.sgul.ac.uk/id/eprint/112497 | ||||||||||||||||||
Publisher's version: | https://doi.org/10.1093/hmg/ddz197 |
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