Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated.
Hum Mol Genet
; 28(R2): R151-R161, 2019 11 21.
Article
em En
| MEDLINE
| ID: mdl-31411675
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Pressão Sanguínea
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Predisposição Genética para Doença
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Estudo de Associação Genômica Ampla
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Hipertensão
Tipo de estudo:
Etiology_studies
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Risk_factors_studies
Limite:
Animals
/
Humans
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article