Discovering a link between genetics and high blood pressure in African Americans

2019

Challenge

African Americans and other individuals of African ancestry are disproportionately affected by poor overall heart health and have a higher risk of death from heart disease compared to Americans of European descent. High blood pressure is a significant risk factor for developing heart disease, and studies show African Americans may be more likely to have higher amounts of aldosterone, a hormone that affects blood pressure by regulating salt and water levels in the body.

Advance

IRP researchers led by senior investigator Constantine Stratakis, D(Med).Sc., M.D., found that variations in a gene called ARMC5 may be associated with excessive aldosterone and high blood pressure in six African American individuals participating in a small study of 56 patients. To confirm these observations, Dr. Stratakis’ team worked with IRP colleagues to examine the association between different variants of the ARMC5 gene and blood pressure in 1,377 African Americans whose information was stored in a previously established database. The analysis showed that certain forms of ARMC5 were associated with high blood pressure in African Americans. These different forms of ARMC5 may affect blood pressure in African Americans by altering aldosterone function.

Impact

High blood pressure is an important, preventable risk factor for heart disease and cardiac-related death that disproportionately affects African Americans. Recognition of the genetic influences on high blood pressure in African Americans may lead to earlier and more effective treatments that prevent the cardiovascular consequences of high blood pressure in this population.

Publications

Zilbermint M, Gaye A, Berthon A, Hannah-Shmouni F, Faucz FR, Lodish MB, Davis AR, Gibbons GH, Stratakis CA. (2019). ARMC5 variants and risk of hypertension in Blacks: MH-GRID study. (2019). J Am. Heart Assoc. 8(14); e012508. doi:10.1161/JAHA.119.012508.

Zilbermint M, Hannah-Shmouni F, Stratakis CA. (2019). Genetics of hypertension in African Americans and others of African descent. Int. J. Mol. Sci. 20(5) doi:10.3390/ijms20051081.

Zilbermint M, Xekouki P, Faucz FR, Berthon A, Gkourogianni A, Schernthaner-Reiter MH, Batsis M, Sinaii N, Quezado MM, Merino M, Hodes A, Abraham SB, Libé R, Assié G, Espiard S, Drougat L, Ragazzon B, Davis A, Gebreab SY, Neff R, Kebebew E, Bertherat J, Lodish MB, Stratakis CA. (2015). Primary aldosteronism and ARMC5 variants. J Clin. Endocrinol. Metab. 100(6):E900-909. doi:10.1210/jc.2014-4167.