ArticleHypertension (Dallas, Tex. : 1979)2022
Rare Variants in Genes Encoding Subunits of the Epithelial Na
Open access · greenAbstract read
In one paragraph
Article in Hypertension (Dallas, Tex. : 1979), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
2.0field-weighted citation impact, top 13% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 23 citations in OpenAlex.
- Case Report: Compound Heterozygous SCNN1B Mutations Causing Pseudohypoaldosteronism Type 1B2 in Neonatal Twins.Molecular genetics & genomic medicine · 2026Article
- Integrated mechanisms linking sodium-potassium imbalance to salt-sensitive hypertension.Physiological reports · 2025Review
- SECS, drugs, and Rac1&Rho: regulation of EnNaC in vascular endothelial cells.Pflugers Archiv : European journal of physiology · 2025Article
- Gut-Heart Axis: The Role of Gut Microbiota and Metabolites in Heart Failure.Circulation research · 2025Review
- Epithelial Na+ Channels, Immune Cells, and Salt.Annual review of physiology · 2025Review
- Diet-Microbiota-Host Interactions in Regulation of Cardiometabolic Homeostasis: Emerging Mechanisms and Therapeutic Potential.Microbiota and host · 2025Article
- Identification of genetic risk variants for Type-2 Diabetes mellitus in Pakistani Pashtun population: A case-control association study.Pakistan journal of medical sciences · 2024Article
- Spatial and seasonal groundwater quality assessment for drinking suitability using index and machine learning approach.Heliyon · 2024Article
- Update in genetic and epigenetic causes of hypertension.Cellular and molecular life sciences : CMLS · 2024Review
- Epithelial NaComprehensive Physiology · 2024Review
- Recent Advances in Understanding Peripheral and Gut Immune Cell-Mediated Salt-Sensitive Hypertension and Nephropathy.Hypertension (Dallas, Tex. : 1979) · 2024Review
- Eicosanoid-Regulated Myeloid ENaC and Isolevuglandin Formation in Human Salt-Sensitive Hypertension.Hypertension (Dallas, Tex. : 1979) · 2024Article
- Mice lacking γENaC palmitoylation sites maintain benzamil-sensitive Na+ transport despite reduced channel activity.JCI insight · 2023Article
- Recording Sodium Self-Inhibition of Epithelial Sodium Channels Using Automated Electrophysiology inMembranes · 2023Article
- The Epithelial Sodium Channel-An Underestimated Drug Target.International journal of molecular sciences · 2023Review
- Salt Taste and Salt Sensitive Hypertension in HIV.Current hypertension reports · 2023Review
- The epithelial sodium channel in inflammation and blood pressure modulation.Frontiers in cardiovascular medicine · 2023Review
- Inflammation and oxidative stress in salt sensitive hypertension; The role of the NLRP3 inflammasome.Frontiers in physiology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors at 16 institutions in 4 countries.
Brandon M BlobnerDivision of Gastroenterology, Hepatology, and Nutrition (B.M.B.), University of Pittsburgh, Pittsburgh' PA.ORCID 0000-0003-0734-1492
Annet KiraboDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (A.K.).ORCID 0000-0001-8580-9359
Ossama B KashlanRenal-Electrolyte Division (O.B.K., S.S., T.R.K.), University of Pittsburgh, Pittsburgh' PA.
Shaohu ShengRenal-Electrolyte Division (O.B.K., S.S., T.R.K.), University of Pittsburgh, Pittsburgh' PA.ORCID 0000-0002-7198-1702
Donna K ArnettCollege of Public Health, University of Kentucky, Lexington' KY (D.K.A.).ORCID 0000-0003-2219-657X
Lewis C BeckerGeneSTAR Research Program, Division of Cardiology, Department of Medicine (L.C.B.), Johns Hopkins University School of Medicine, Baltimore, MD.ORCID 0000-0003-4805-3403
Eric BoerwinkleDepartment of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston' Houston' TX (E.B.).ORCID 0000-0001-8813-0544
Jenna C CarlsonDepartment of Biostatistics, (J.C.C., D.E.W.), University of Pittsburgh, Pittsburgh' PA.
Yan GaoDepartment of Medicine, University of Mississippi Medical Center, Jackson' MS (Y.G.).
Richard A GibbsHuman Genome Sequencing Center (E.B., R.A.G., V.K.M.), Baylor College of Medicine, Houston, TX.
Jiang HeDepartment of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA (J.H., T.K.N., X.S.).ORCID 0000-0002-8286-9652
Marguerite R IrvinDepartment of Epidemiology, University of Alabama at Birmingham' Birmingham' AL (M.R.I.).
Sharon L R KardiaDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor' MI (S.L.R.K., J.A.S.).
Tanika N KellyDepartment of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA (J.H., T.K.N., X.S.).ORCID 0000-0002-7348-4451
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA (C.K., A.P.R.).ORCID 0000-0002-7986-8560
Stephen T McGarveyDepartment of Epidemiology and International Health Institute, Brown University School of Public Health, Providence, RI (S.T.M., T.N.).ORCID 0000-0003-1233-6970
Vipin K MenonHuman Genome Sequencing Center (E.B., R.A.G., V.K.M.), Baylor College of Medicine, Houston, TX.
May E MontasserDepartment of Medicine, University of Maryland, Baltimore' MD (M.E.M.).
Take NaseriDepartment of Epidemiology and International Health Institute, Brown University School of Public Health, Providence, RI (S.T.M., T.N.).
Susan RedlineDivision of Sleep and Circadian Disorders, Department of Medicine, Brigham and Women's Hospital, Boston, MA (S.R.).ORCID 0000-0002-6585-1610
Alexander P ReinerDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA (C.K., A.P.R.).ORCID 0000-0002-1427-4470
Muagututi'a S ReupenaLutia i Puava 'ae Mapu i Fagalele, Apia, Samoa (M.S.R.).
Jennifer A SmithDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor' MI (S.L.R.K., J.A.S.).ORCID 0000-0002-3575-5468
Xiao SunDepartment of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA (J.H., T.K.N., X.S.).ORCID 0000-0001-8802-2957
Dhananjay VaidyaGeneSTAR Research Program, Division of General Internal Medicine, Department of Medicine (D.V., L.R.Y.), Johns Hopkins University School of Medicine, Baltimore, MD.ORCID 0000-0002-7164-1601
Karine A Viaud-MartinezIllumina Laboratory Services, Illumina Inc, San Diego, CA (K.A.V.-M.).
Daniel E WeeksDepartment of Biostatistics, (J.C.C., D.E.W.), University of Pittsburgh, Pittsburgh' PA.
Lisa R YanekGeneSTAR Research Program, Division of General Internal Medicine, Department of Medicine (D.V., L.R.Y.), Johns Hopkins University School of Medicine, Baltimore, MD.ORCID 0000-0001-7117-1075
Xiaofeng ZhuDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH (X.Z.).
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium*
Ryan L MinsterDepartment of Human Genetics, (J.C.C., D.E.W., R.L.M.), University of Pittsburgh, Pittsburgh' PA.ORCID 0000-0001-7382-6717
Thomas R KleymanRenal-Electrolyte Division (O.B.K., S.S., T.R.K.), University of Pittsburgh, Pittsburgh' PA.ORCID 0000-0002-2413-5415
University of Pittsburgh · USBaylor College of Medicine · USJohns Hopkins University · USTulane University · USBrown University · USCape Town HVTN Immunology Laboratory / Hutchinson Centre Research Institute of South Africa · ZAUniversity of Michigan · USBrigham and Women's Hospital · USCase Western Reserve University · USIllumina (United States) · USUniversity of Alabama at Birmingham · USUniversity of Kentucky · USUniversity of Maryland, Baltimore · USUniversity of Mississippi Medical Center · USVanderbilt University Medical Center · USWikimedia Eesti · EE
Funding
ZINC AND CA EDTA THERAPY OF PLUMBISMM01RR000052 · NCRR · JOHNS HOPKINS UNIVERSITY · PI VINING, EILEEN PATRICE · 1985 to 2007
$37.3MHYPERGEN: GENETICS OF LEFT VENTRICULAR HYPERTROPHYR01HL055673 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI ARNETT, DONNA K · 1996 to 2016
$18.1MSingle Nephron and MetabolomicsP30DK079307 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI CARATTINO, MARCELO DANIEL · 2008 to 2022
$13.4MGenotypic Determinants of Aspirin Response in High Risk FamiliesU01HL072518 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI BECKER, LEWIS C · 2002 to 2008
$12.8MRare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9MIntegrated cellular, mouse and human research on a novel missense variant influencing adiposity in SamoansR01HL093093 · NHLBI · BROWN UNIVERSITY · PI MCGARVEY, STEPHEN T. · 2009 to 2019
$8.2MGenetic Epidemiology of Blood Pressure InterventionU01HL072507 · NHLBI · TULANE UNIVERSITY OF LOUISIANA · PI HE, JIANG · 2002 to 2008
$7.6MNext Generation Association Studies of Adiposity in Samoans Enhanced by a Samoan-Specific Whole Genome Sequence Reference PanelR01HL133040 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Ryan Lee Minster · 2017 to 2026
$7.5MPhenotypic and Molecular Signatures for Sleep Apnea and Related MorbiditiesR35HL135818 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI REDLINE, SUSAN S. · 2017 to 2023
$7.2MTranslational Program in CFTR-Related Airway DiseasesR35HL135816 · NHLBI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI ROWE, STEVEN MARK · 2017 to 2022
$6.3MDigestive Diseases Training ProgramT32DK063922 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI ARTEEL, GAVIN E, YADAV, DHIRAJ · 2003 to 2022
$5.2MA Family-based Exome Sequencing Approach to Identify Platelet Aggregation GenesR01HL112064 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI MATHIAS, RASIKA ANN · 2012 to 2015
$5.1MNCRR NIH HHS M01 RR000052NHGRI NIH HHS R01 HG011052NHLBI NIH HHS K01 HL130497NHLBI NIH HHS R01 HL046380NHLBI NIH HHS R01 HL049762NHLBI NIH HHS R01 HL055673NHLBI NIH HHS R01 HL056205NHLBI NIH HHS R01 HL071025NHLBI NIH HHS R01 HL087263NHLBI NIH HHS R01 HL087698NHLBI NIH HHS R01 HL090682NHLBI NIH HHS R01 HL093093NHLBI NIH HHS R01 HL112064NHLBI NIH HHS R01 HL113338NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL133040NHLBI NIH HHS R01 HL144941NHLBI NIH HHS R01 HL147818NHLBI NIH HHS R03 HL155041NHLBI NIH HHS R35 HL135816NHLBI NIH HHS R35 HL135818NHLBI NIH HHS U01 HL072507NHLBI NIH HHS U01 HL072518NIDDK NIH HHS P30 DK079307NIDDK NIH HHS R01 DK098204NIDDK NIH HHS R01 DK125439NIDDK NIH HHS T32 DK061296NIDDK NIH HHS T32 DK063922NINR NIH HHS R01 NR002241
Abstract
backgroundThe epithelial Na
methodsWe 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.
resultsWe found that variants in
conclusionsOur results suggest that variants in extrarenal ENaCs, in addition to ENaCs expressed in kidneys, influence blood pressure and kidney function.
Indexed as
Epithelial Sodium ChannelsSodiumBlood PressureHumansKidneyPhenotypeEpithelial Sodium ChannelsSodiumarterial pressureblood pressureENaC (epithelial Na+ channel)glomerular filtration ratekidneystroke
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.