In a groundbreaking study published in Nature Genetics, researchers from the National Institutes of Health and collaborators have identified more than 100 new genomic regions that appear to influence an individual’s blood pressure. The findings, which are based on data from over 1 million participants, provide valuable insights into the genetic factors contributing to hypertension and may lead to the development of personalized treatments for the condition.
The study, one of the largest genomic studies of blood pressure to date, discovered a total of 2,000 genomic loci linked to blood pressure, including 113 previously unknown regions. These newly identified loci could help explain a much larger proportion of the differences in blood pressure between individuals.
“Our study helps explain a much larger proportion of the differences between two people’s blood pressure than was previously known,” said Jacob Keaton, Ph.D., staff scientist in the Precision Health Informatics Section within the National Human Genome Research Institute’s (NHGRI) Intramural Research Program and first author of the study. “Knowing a person’s risk for developing hypertension could lead to tailored treatments, which are more likely to be effective.”
Among the newly discovered genomic loci, several were found to reside in genes that play a role in iron metabolism, confirming previous reports that high levels of accumulated iron can contribute to cardiovascular disease. The researchers also confirmed the association between variants in the ADRA1A gene, which encodes an adrenergic receptor targeted by current blood pressure medications, and blood pressure regulation. This finding suggests that other genomic variants discovered in the study may also have the potential to serve as drug targets for altering blood pressure.
“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,” said Dr. Keaton.
The researchers used the collected data to calculate a polygenic risk score, which combines the effects of all genomic variants to predict an individual’s blood pressure and risk for hypertension. While the study primarily used data from people of European ancestry due to limited availability of diverse datasets, the researchers found that the polygenic risk scores were also applicable to people of African ancestry, as confirmed through analyzing data from NIH’s All of Us Research Program.
Nearly half of adults in the United States have high blood pressure, which can lead to serious health complications such as heart disease, kidney disease, and stroke. The condition often runs in families, indicating a genetic component in addition to environmental factors such as diet, exercise, smoking, and stress.
The project was led by researchers at NHGRI in collaboration with Queen Mary University of London, Vanderbilt University Medical Center, the University of Groningen in the Netherlands, and other institutions, as part of the International Consortium of Blood Pressure. Over 140 investigators from more than 100 universities, institutes, and government agencies contributed to this international study.
Keyword/Phrase: Genetic Regions Linked to Blood Pressure
