Article
The functional c.-2G>C variant of the mineralocorticoid receptor modulates blood pressure, renin, and aldosterone levels.
Hypertension (Dallas, Tex. : 1979) - 1 Nov 2010
van Leeuwen Nienke, Caprio Massimiliano, Blaya Carolina, Fumeron Frédéric, Sartorato Paola, Ronconi Vanessa, Giacchetti Gilberta, Mantero Franco, Fernandes-Rosa Fabio L, Simian Christophe, Peyrard Sévrine, Zitman Frans G, Penninx Brenda W J H, de Kloet E Ron, Azizi Michel, Jeunemaitre Xavier, Derijk Roel H, Zennaro Maria-Christina
Abstract excerpt
The mineralocorticoid receptor (MR) is essential in the regulation of volemia and blood pressure. Rare mutations in the MR gene cause type 1 pseudohypoaldosteronism and hypertension. In this study we characterized the common MR polymorphism c.-2G>C (rs2070951) in vitro and tested its influence on parameters related to blood pressure regulation and the renin-angiotensin system. In vitro studies showed that the G...
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