Researchers uncover more than 100 novel genomic regions associated with blood pressure

A landmark study led by the National Institutes of Health (NIH) has uncovered a wealth of new genetic insights into blood pressure regulation. Published in Nature Genetics, the research reveals over 100 previously unidentified regions in the human genome that impact blood pressure. This groundbreaking work, leveraging data from over 1 million participants, sheds light on the intricate mechanisms governing blood pressure variation and offers potential avenues for targeted therapies.

Led by Dr. Jacob Keaton of the National Human Genome Research Institute, the study underscores the significant genetic component underlying blood pressure differences between individuals. By amalgamating data from large-scale genome-wide association studies, the researchers identified over 2,000 genomic loci associated



with blood pressure, including 113 novel regions. Notably, some of these newly discovered loci implicate genes involved in iron metabolism, reaffirming the link between iron accumulation and cardiovascular health.

Furthermore, the study reaffirms the role of the ADRA1A gene in blood pressure regulation, hinting at additional genomic targets for hypertension medication. Dr. Keaton emphasizes the clinical relevance of such findings, highlighting the potential for novel drug targets to emerge from large-scale genomic studies.

The research team also developed a polygenic risk score, amalgamating genetic variants to predict blood pressure and hypertension risk. While promising for precision medicine, broader application hinges on diversifying genomic datasets. Encouragingly, analyses incorporating data from diverse populations, including those of African ancestry, demonstrate the transferability of these risk scores.

Given the pervasive impact of hypertension on public health, with nearly half of U.S. adults affected, understanding its genetic underpinnings is paramount. By elucidating the interplay between genetics and environmental factors, such as diet and lifestyle, this study lays the groundwork for tailored interventions to mitigate hypertension's detrimental effects on cardiovascular health.

This collaborative effort, spearheaded by NHGRI in conjunction with global partners like Queen Mary University of London and Vanderbilt University Medical Center, underscores the importance of international cooperation in advancing genomic research. With contributions from over 140 investigators worldwide, this study represents a significant step toward unraveling the complexities of blood pressure regulation and improving health outcomes on a global scale.