NIH scientists link genetics to risk of high blood pressure among blacks

News Release

Wednesday, July 3, 2019

Variants in the gene ARMC5 may be associated with high blood pressure among blacks, according to a National Institutes of Health study led by researchers at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The study team identified 17 variants in the ARMC5 gene that were associated with high blood pressure by analyzing genetic research databases that include those of African descent. The study is published in the July 3, 2019, issue of the Journal of the American Heart Association.

“High blood pressure increases a person’s risk for heart disease and stroke,” said Constantine A. Stratakis, M.D., D. Sc., NICHD Scientific Director and the study’s senior author. “The condition is more common among blacks, who also tend to get it at a younger age than whites do, and we are studying the underlying causes of this health disparity.”

Earlier work by the NICHD group linked some variants of ARMC5 to primary aldosteronism, a hormonal disorder that causes high blood pressure, among black patients. In the current study, the researchers analyzed datasets containing genetic information from large numbers of people, including NIH’s Minority Health Genomics and Translational Research Bio-Repository Database and the Genomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African-Americans Study, which are based in the United States, as well as the UK Biobank.

The researchers identified 17 variants of ARMC5 that were associated with blood pressure among blacks. One variant, called rs116201073, was “protective” and associated with lower blood pressure. It was more common than the others, and it appeared limited to people of African descent, as it is found only in Africans in the international 1000 Genomes Project.

The researchers also reconstructed the rs116201073 variant in cell lines and found that it was more active than other variants of the ARMC5 gene. However, the exact function of the ARMC5 gene is unclear, and more work is needed to understand what the gene does and how variants may protect or predispose a person to high blood pressure.

“Collectively, our research suggests that ARMC5 may play an important role in regulating blood pressure in blacks,” said Mihail Zilbermint, M.D., one of the lead authors of the study. “Because the gene is linked to primary aldosteronism, ARMC5 may be involved in how the adrenal glands function and with the hormones that are important for regulating blood pressure.”

Funding for the study was provided by NICHD. Other authors are from the National Human Genome Research Institute, the National Heart, Lung, and Blood Institute, the Johns Hopkins University School of Medicine, UCSF and the Uniform Services University.

About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): NICHD leads research and training to understand human development, improve reproductive health, enhance the lives of children and adolescents, and optimize abilities for all. For more information, visit http://www.nichd.nih.gov.

NHGRI is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and Human Services. The NHGRI Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: www.genome.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

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Reference

Zilbermint M, Gaye A, Berthon A, Hannah-Shmouni F, Faucz FR, Lodish MB, Davis AR, Gibbons GH, and Stratakis CA. ARMC5 variants and risk of hypertension in blacks: MHGRID study. Journal of the American Heart Association DOI: 10.1161/JAHA.119.012508 (2019)

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