Rare ARMC5 gene variant linked with hypertension in black adults
In a new study, rare variants of the gene ARMC5 showed an association with hypertension found only in black adults.
Mihail Zilbermint, MD, assistant professor of medicine at Johns Hopkins University School of Medicine, and colleagues investigated the association between BP in black adults and ARMC5 variants, using data cohort from the Minority Health Genomics and Translational Research Bio-Repository Database (MH-GRID).
“High blood pressure increases a person’s risk for heart disease and stroke,” Constantine A. Stratakis, MD, DMedSc, scientific director at Eunice Kennedy Shriver National Institute of Child Health and Human Development, said in a press release. “The condition is more common among blacks, who tend to get it at a younger age than whites do, and we are studying the underlying causes of this health disparity.”
The researchers analyzed whole-exome sequencing data of black adults (n = 1,377).
Zilbermint and colleagues performed target-single variant and gene-based association analyses of hypertension for ARMC5 that were replicated in a subset of 3,015 participants of African descent from the UK Biobank cohort.
The researchers found 16 rare variants associated with hypertension (P = .0402), using an optimized sequenced kernel association test (SKAT-O) analysis.
The 16 variants and one other, rs116201073, showed a strong association with lower BP (P = .0003), with the rs116201073 variant associated with lower BP.
The researchers used HEK293 cells and adrenocortical H295R cells transfected with an ARMC5 construct containing rs116201073 and found that the adrenocortical H295R cells were common in the MH-GRID and UK Biobank datasets and reached statistical significance (OR = 0.7; P = .044 for MH-GRID; OR = 0.76; P = .007 for UK Biobank).
The allele carrying levels of rs116201073 increased levels of ARMC5 mRNA, consistent with its protective effect in epidemiological data, Zilbermint and colleagues wrote.
“Collectively, our research suggests ARMC5 may play an important role in regulating blood pressure in blacks,” Zilbermint said in the release. “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.” – by Earl Holland Jr.
Disclosures: The authors report no relevant financial disclosures.