An NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.

Summary: National Institutes of Health researchers and collaborators have discovered 113 new genomic regions linked to blood pressure, advancing the understanding of genetic factors in hypertension. Published in Nature Genetics, the study analyzed data from over 1 million participants and identified potential targets for blood pressure medication, including genes involved in iron metabolism and adrenergic receptors. Researchers say the findings could lead to personalized treatments based on an individual’s genetic risk for developing hypertension.

Key Takeaways:

  • Researchers identified 113 new genomic regions that influence blood pressure, expanding the understanding of the genetic components involved in hypertension.
  • The study highlights the potential for developing personalized blood pressure management strategies based on individual genetic profiles, which could lead to more effective treatments for hypertension.
  • The findings underscore the importance of genome-wide association studies for identifying new drug targets and advancing the field of precision medicine.

A new study has discovered over 100 new regions of the human genome that appear to influence a person’s blood pressure. 

Results of the study by National Institutes of Health researchers and collaborators also point to several specific regions of the human genome, also known as genomic loci, that may be relevant to iron metabolism and a type of cellular receptor known as adrenergic receptors. 

The study, published in Nature Genetics, is one of the largest such genomic studies of blood pressure to date, according to the authors, including data from over 1 million participants and laying the groundwork for researchers to better understand how blood pressure is regulated. Such insights could point to potential new drug targets. 

Study Reveals Key Genetic Factors in Blood Pressure

“Our study helps explain a much larger proportion of the differences between two people’s blood pressure than was previously known,” says Jacob Keaton, PhD, staff scientist in the precision health informatics section within the National Human Genome Research Institute’s intramural research program and first author of the study, in a release. “Our study found additional genomic locations that together explain a much larger part of the genetic differences in people’s blood pressure. Knowing a person’s risk for developing hypertension could lead to tailored treatments, which are more likely to be effective.” 

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To understand the genetics of blood pressure, the researchers combined four large datasets from genome-wide association studies of blood pressure and hypertension. After analyzing the data, they found over 2,000 genomic loci linked to blood pressure, including 113 new regions. Among the newly discovered genomic loci, several reside in genes that play a role in iron metabolism, confirming previous reports that high levels of accumulated iron can contribute to cardiovascular disease.  

Genomic Study Advances Blood Pressure Drug Targets

The researchers also confirmed the association between variants in the ADRA1A gene and blood pressure. ADRA1A encodes a type of cell receptor, called an adrenergic receptor, that is currently a target for blood pressure medication, suggesting that other genomic variants discovered in the study may also have the potential to be drug targets to alter blood pressure. 

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“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,” says Keaton in a release. 

Polygenic Scores: Predicting Hypertension Risk

From these analyses, the researchers were able to calculate a polygenic risk score, which combines the effects of all genomic variants together to predict blood pressure and risk for hypertension. These risk scores consider which genomic variants confer risk for hypertension and reveal clinically meaningful differences between people’s blood pressure. 

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Polygenic risk scores have potential to serve as a useful tool in precision medicine, but more diverse genomic data is needed for them to be applicable broadly in routine health care. While the collected data was mostly from people of European ancestry (due to limited availability of diverse datasets when the study was started), the researchers found that the polygenic risk scores were also applicable to people of African ancestry, which was confirmed through analyzing data from NIH’s All of Us Research Program, a nationwide effort to build one of the largest biomedical data resources and accelerate research to improve human health. 

High Blood Pressure: A Widespread Genetic Challenge

Nearly half of adults in the United States have high blood pressure. High blood pressure often runs in families, meaning that there is a genetic component to developing the condition in addition to environmental contributions such as a high-salt diet, lack of exercise, smoking, and stress. When blood pressure is consistently too high, it can damage the heart and blood vessels throughout the body, increasing a person’s risk for heart disease, kidney disease, stroke, and other conditions.  

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Over 140 investigators from more than 100 universities, institutes, and government agencies contributed to this international study. 

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