The Association of the R563Q Genotype of the ENaC With Phenotypic Variation in Southern Africa

• Published in: American journal of hypertension Vol. 25; no. 12; pp. 1286 - 1291
• Main Authors: Jones, Erika S.W., Owen, E. Patricia, Rayner, Brian L.
• Format: Journal Article
• Language: English
• Published: Basingstoke Oxford University Press 01.12.2012; Nature Publishing Group
• Subjects: Adult; African Continental Ancestry Group - genetics; Aged; Amiloride - therapeutic use; Antihypertensive Agents - therapeutic use; Arterial hypertension. Arterial hypotension; Asian Continental Ancestry Group - genetics; Biological and medical sciences; Blood and lymphatic vessels; Blood Pressure - drug effects; Blood Pressure - genetics; Cardiology. Vascular system; Case-Control Studies; Chi-Square Distribution; Clinical manifestations. Epidemiology. Investigative techniques. Etiology; Epithelial Sodium Channel Blockers - therapeutic use; Epithelial Sodium Channels - drug effects; Epithelial Sodium Channels - genetics; European Continental Ancestry Group - genetics; Female; Gene Frequency; Genetic Predisposition to Disease; Genetic Variation; Heterozygote; Humans; Hypertension - drug therapy; Hypertension - ethnology; Hypertension - genetics; Hypertension - physiopathology; Male; Medical sciences; Middle Aged; Namibia - epidemiology; Phenotype; Prevalence; South Africa - epidemiology; Treatment Outcome; Africa; South Africa; Namibia; blood pressure; ENaC; sodium channel; hypertension; R563Q; Africa; Hypertension; Sodium; Genotype; Cardiovascular disease; Arterial pressure; Blood pressure

Background 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...