The Association of the R563Q Genotype of the ENaC With Phenotypic Variation in Southern Africa
Author(s) -
Erika Jones,
E. Owen,
Brian Rayner
Publication year - 2012
Publication title -
american journal of hypertension
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.009
H-Index - 136
eISSN - 1941-7225
pISSN - 0895-7061
DOI - 10.1038/ajh.2012.125
Subject(s) - medicine , epithelial sodium channel , amiloride , aldosterone , blood pressure , cape , endocrinology , plasma renin activity , negroid , genotype , renin–angiotensin system , sodium , genetics , epidemiology , biology , gene , history , chemistry , organic chemistry , archaeology
The epithelial sodium channel (ENaC) may be a common underlying pathway for the development of primary hypertension. In South Africa, the R563Q variant of the ENaC is associated with low-renin-low-aldosterone hypertension and preeclampsia in black Africans and mixed-ancestry peoples. The purpose of this study was to investigate the prevalence of the R563Q variant in the multiethnic populations of South Africa, its association with hypertension and response to amiloride in patients with resistant hypertension.
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