MOLECULAR GENETIC MARKERS IN THE DEVELOPMENT OF ARTERIAL HYPERTENSION
DOI:
https://doi.org/10.5281/zenodo.17275517Keywords:
candidate genes; GWAS; polygenic risk score; renin-angiotensin- aldosterone system; microRNA; pharmacogenetics; personalized medicine;Abstract
Arterial hypertension (AH) has a pronounced genetic determination. A brief historical review of molecular genetic markers of AH is presented: from candidate genes (ACE, AGT, AGTR1, NOS3, etc.) to genome-wide association studies (GWAS) that have identified dozens of replicated small-effect loci (ATP2B1, CACNB2, CYP17A1, NPR3, UMOD, etc.), and to multi-omic approaches (epigenetics, microRNA). Polygenic risk scores are shown to improve prognosis accuracy beyond traditional factors, while pharmacogenetic signals outline personalized therapy choices. Limitations (ethnic tolerance, phenotyping) and prospects for integrating genetics with digital phenotyping to create clinically applicable, ethically verified tools for personalized cardiology are noted.
References
International Consortium for Blood Pressure. Genetic variants in novel pathways influencing blood pressure and cardiovascular disease risk. Nature. 2011;478:103 –109.
Evangelou E., Warren HR, et al. Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Nat Genet. 2018;50(10):1412–1425.
Keaton JM, et al. Genome-wide analysis in over 1 million individuals reveals 113 novel loci for blood pressure traits. Nat Genet. 2024;56:
Warren HR, et al. Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. Nat Genet. 2017;49(3):403–415.
Surendran P., et al. Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. Nat Genet . 2016;48:1151–1161 .
