Article
Rare Variants in Genes Encoding Subunits of the Epithelial Na+ Channel Are Associated With Blood Pressure and Kidney Function.
Hypertension (Dallas, Tex. : 1979) - 1 Nov 2022
Blobner Brandon M, Kirabo Annet, Kashlan Ossama B, Sheng Shaohu, Arnett Donna K, Becker Lewis C, Boerwinkle Eric, Carlson Jenna C, Gao Yan, Gibbs Richard A, He Jiang, Irvin Marguerite R, Kardia Sharon L R, Kelly Tanika N, Kooperberg Charles, McGarvey Stephen T, Menon Vipin K, Montasser May E, Naseri Take, Redline Susan, Reiner Alexander P, Reupena Muagututi'a S, Smith Jennifer A, Sun Xiao, Vaidya Dhananjay, Viaud-Martinez Karine A, Weeks Daniel E, Yanek Lisa R, Zhu Xiaofeng, Minster Ryan L, Kleyman Thomas R
Abstract excerpt
BACKGROUND: The epithelial Na+ channel (ENaC) is intrinsically linked to fluid volume homeostasis and blood pressure. Specific rare mutations in SCNN1A, SCNN1B, and SCNN1G, genes encoding the α, β, and γ subunits of ENaC, respectively, are associated with extreme blood pressure phenotypes. No associations between blood pressure and SCNN1D, which encodes the δ subunit of ENaC, have been reported. A small number of...
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