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ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study
Mihail Zilbermint1,2,3,4, Amadou Gaye5, Annabel Berthon1
11 Section on Endocrinology and Genetics Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda MD.
Journal of the American Heart Association
|July 4, 2019
Summary
Genetic variants in the ARMC5 gene are linked to hypertension in Black individuals. A specific variant, rs116201073, was found to be protective, lowering blood pressure and increasing ARMC5 gene expression.
Area of Science:
- Genetics
- Cardiovascular Disease
- Genomics
Background:
- Previous research suggested a link between ARMC5 gene variants and primary aldosteronism in Black populations.
- Hypertension is a significant health concern, particularly in minority ethnic groups.
Purpose of the Study:
- To investigate the association between ARMC5 gene variants and blood pressure in a cohort of Black individuals.
- To identify specific ARMC5 variants related to hypertension and their potential functional effects.
Main Methods:
- Whole exome sequencing of 1377 Black individuals from the MH-GRID database.
- Gene-based association analysis of ARMC5 variants with hypertension, replicated in 3015 individuals of African descent from the UK Biobank.
- In vitro studies using cell lines to examine the functional impact of a specific ARMC5 variant (rs116201073).
Main Results:
- Sixteen rare ARMC5 variants were significantly associated with hypertension.
- The variant rs116201073 showed a strong association with lower blood pressure (P=0.0003) and was linked to increased ARMC5 mRNA levels in vitro.
- This protective variant was common in both discovery and replication cohorts.
Conclusions:
- The ARMC5 gene is associated with hypertension in Black individuals, particularly when rare variants are considered.
- A protective ARMC5 variant (rs116201073) was identified, influencing ARMC5 expression and potentially lowering blood pressure.
- These findings reinforce the role of ARMC5 in blood pressure regulation within Black populations.
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