Groundbreaking genomic study identifies over 100 new loci linked to blood pressure regulation
In a landmark genomic study published in Nature Genetics [1], researchers from the National Institutes of Health (NIH) and international collaborators have unveiled over 100 new genomic loci that appear to influence an individual’s blood pressure levels.
This extensive study, involving data from over 1 million participants, represents one of the largest genomic investigations into blood pressure to date, significantly expanding our understanding of the genetic underpinnings of hypertension.
The study identified a total of 2,000 genomic loci associated with blood pressure regulation, including 113 newly discovered regions. Notably, several of these novel loci reside in genes implicated in iron metabolism, corroborating previous evidence linking elevated iron levels to an increased risk of cardiovascular disease. Additionally, the researchers confirmed the association between variants in the ADRA1A gene, which encodes an adrenergic receptor targeted by certain blood pressure medications, and blood pressure regulation.
“Our study helps explain a much larger proportion of the differences between two people’s blood pressure than was previously known,” explained Jacob Keaton, Ph.D., staff scientist at the NHGRI’s Precision Health Informatics Section and the study’s first author. “Our findings could lead to tailored treatments for hypertension, which are more likely to be effective.”
Our findings could lead to tailored treatments for hypertension, which are more likely to be effective.
Polygenic risk scores
By combining the effects of all identified genomic variants, the researchers developed polygenic risk scores capable of predicting an individual’s blood pressure and risk for hypertension. These risk scores revealed clinically meaningful differences in blood pressure levels among individuals. Encouragingly, the researchers found that the polygenic risk scores were applicable not only to individuals of European ancestry but also to those of African ancestry, as validated by data from the NIH’s All of Us Research Program.
“This study shows that these big genome-wide association studies have clinical relevance for finding new drug targets and are needed to discover more drug targets as we go forward,” emphasized Dr. Keaton.
NHGRI-led collaboration
The study was a collaborative effort led by researchers at the NHGRI, in partnership with institutions such as Queen Mary University of London, Vanderbilt University Medical Center, the University of Groningen, and over 100 universities, institutes, and government agencies as part of the International Consortium of Blood Pressure.
With nearly half of adults in the United States affected by hypertension, a condition known to increase the risk of heart disease, kidney disease, stroke, and other conditions, this groundbreaking research holds significant promise for advancing precision medicine approaches to blood pressure management and improving patient outcomes.
Reference:
- Keaton, J.M., Kamali, Z., Xie, T. et al. Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits. Nat Genet (2024). https://doi.org/10.1038/s41588-024-01714-w
