Title | Rare Variants in Genes Encoding Subunits of the Epithelial Na Channel Are Associated With Blood Pressure and Kidney Function. |
Publication Type | Journal Article |
Year of Publication | 2022 |
Authors | Blobner, BM, Kirabo, A, Kashlan, OB, Sheng, S, Arnett, DK, Becker, LC, Boerwinkle, E, Carlson, JC, Gao, Y, Gibbs, RA, He, J, Irvin, MR, Kardia, SLR, Kelly, TN, Kooperberg, C, McGarvey, ST, Menon, VK, Montasser, ME, Naseri, T, Redline, S, Reiner, AP, Reupena, M'aS, Smith, JA, Sun, X, Vaidya, D, Viaud-Martinez, KA, Weeks, DE, Yanek, LR, Zhu, X, Minster, RL, Kleyman, TR |
Corporate Authors | NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium* |
Journal | Hypertension |
Volume | 79 |
Issue | 11 |
Pagination | 2573-2582 |
Date Published | 2022 Nov |
ISSN | 1524-4563 |
Keywords | Blood Pressure, Epithelial Sodium Channels, Humans, Kidney, Phenotype, Sodium |
Abstract | BACKGROUND: The epithelial Na channel (ENaC) is intrinsically linked to fluid volume homeostasis and blood pressure. Specific rare mutations in , , and , genes encoding the α, β, and γ subunits of ENaC, respectively, are associated with extreme blood pressure phenotypes. No associations between blood pressure and , 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, with systolic blood pressure, diastolic blood pressure, mean arterial pressure, and pulse pressure. Using whole-genome sequencing data from 14 studies participating in the Trans-Omics in Precision Medicine Whole-Genome Sequencing Program, and sequence kernel association tests. RESULTS: We found that variants in and were associated with diastolic blood pressure and mean arterial pressure ( CONCLUSIONS: Our results suggest that variants in extrarenal ENaCs, in addition to ENaCs expressed in kidneys, influence blood pressure and kidney function. |
DOI | 10.1161/HYPERTENSIONAHA.121.18513 |
Alternate Journal | Hypertension |
PubMed ID | 36193739 |
PubMed Central ID | PMC9669116 |
Grant List | R01 HL087698 / HL / NHLBI NIH HHS / United States P30 DK079307 / DK / NIDDK NIH HHS / United States R01 HL133040 / HL / NHLBI NIH HHS / United States R01 HL120393 / HL / NHLBI NIH HHS / United States R01 NR002241 / NR / NINR NIH HHS / United States R01 HG011052 / HG / NHGRI NIH HHS / United States U01 HL072518 / HL / NHLBI NIH HHS / United States R01 HL147818 / HL / NHLBI NIH HHS / United States T32 DK063922 / DK / NIDDK NIH HHS / United States R01 HL087263 / HL / NHLBI NIH HHS / United States R01 HL049762 / HL / NHLBI NIH HHS / United States R01 HL046380 / HL / NHLBI NIH HHS / United States M01 RR000052 / RR / NCRR NIH HHS / United States R35 HL135816 / HL / NHLBI NIH HHS / United States U01 HL072507 / HL / NHLBI NIH HHS / United States R01 HL090682 / HL / NHLBI NIH HHS / United States T32 DK061296 / DK / NIDDK NIH HHS / United States R01 DK125439 / DK / NIDDK NIH HHS / United States R01 HL144941 / HL / NHLBI NIH HHS / United States R01 HL113338 / HL / NHLBI NIH HHS / United States R01 HL112064 / HL / NHLBI NIH HHS / United States R01 HL093093 / HL / NHLBI NIH HHS / United States R01 HL056205 / HL / NHLBI NIH HHS / United States R03 HL155041 / HL / NHLBI NIH HHS / United States K01 HL130497 / HL / NHLBI NIH HHS / United States R01 HL055673 / HL / NHLBI NIH HHS / United States R01 HL071025 / HL / NHLBI NIH HHS / United States R01 DK098204 / DK / NIDDK NIH HHS / United States |
Rare Variants in Genes Encoding Subunits of the Epithelial Na Channel Are Associated With Blood Pressure and Kidney Function.
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