Human epithelial Na+ channel missense variants identified in the GenSalt study alter channel activity.

ABSTRACT: Mutations in genes encoding subunits of the epithelial Na⁺ channel (ENaC) can cause early onset familial hypertension, demonstrating the importance of this channel in modulating blood pressure. It remains unclear whether other genetic variants resulting in subtler alterations of channel function result in hypertension or altered sensitivity of blood pressure to dietary salt. This study sought to identify functional human ENaC variants to examine how these variants alter channel activity and to explore whether these variants are associated with altered sensitivity of blood pressure to dietary salt. Six-hundred participants of the Genetic Epidemiology Network of Salt Sensitivity (GenSalt) study with salt-sensitive or salt-resistant blood pressure underwent sequencing of the genes

SUBMITTER: Ray EC 

PROVIDER: S-EPMC5130461 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature