Rare Variants in Genes Encoding Subunits of the Epithelial Na⁺ Channel Are Associated With Blood Pressure and Kidney Function.

ABSTRACT:

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 sequence variants in ENaC subunits have been reported to affect functional transport in vitro or blood pressure. The effects of the vast majority of rare and low-frequency ENaC variants on blood pressure are not known.

Methods

We explored the association of low frequency and rare variants in the genes encoding ENaC subunits, wit

SUBMITTER: Blobner BM 

PROVIDER: S-EPMC9669116 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature