PuSH - Publication Server of Helmholtz Zentrum München: NFAT5 and SLC4A10 loci associate with plasma osmolality.

Information

Clues to quality of journals

Open Access Policy of Helmholtz Association 2016

CC Licencences

Publication Metrics

Navigation

Home

Deutsch

Research

Advanced Search

Browse by ...

... HMGU-Authors/Consortia

... Organizational Structure

... Journal

... Publication Type

... Research Data

... Arbeitsgruppen

... Publication Year

Publication overview

Statistics

Statistics (last 5 years)

OA Publications

Publish

Submit Publication

Import publication from...

...EVA

Report missing publication

Highlights

Support & Contact

Contact persons

Help

Data protection

Helmholtz Open Science

JANE Journal Estimator

SHERPA/RoMEO

DOAJ

Export:

Text

Endnote (RIS) BIB

BibTeX

Böger, C.A.* ; Gorski, M.* ; McMahon, G.M.* ; Xu, H.* ; Chang, Y.C.* ; van der Most, P.J.* ; Navis, G.* ; Nolte, I.M.* ; de Borst, M.H.* ; Zhang, W.* ; Lehne, B.* ; Loh, M.* ; Tan, S.T.* ; Boerwinkle, E.* ; Grams, M.E.* ; Sekula, P.* ; Li, M.* ; Wilmot, B.* ; Moon, J.G.* ; Scheet, P.* ; Cucca, F.* ; Xiao, X.* ; Lyytikäinen, L.-P.* ; Delgado, G.* ; Grammer, T.B.* ; Kleber, M.E.* ; Sedaghat, S.* ; Rivadeneira, F.* ; Corre, T.* ; Kutalik, Z.* ; Bergmann, S.* ; Nielson, C.M.* ; Srikanth, P.* ; Teumer, A.* ; Müller-Nurasyid, M. ; Brockhaus, A.C.* ; Pfeufer, A.* ; Rathmann, W.* ; Peters, A. ; Matsumoto, M.* ; de Andrade, M.* ; Atkinson, E.J.* ; Robinson-Cohen, C.* ; de Boer, I.H.* ; Hwang, S.J.* ; Heid, I.M.* ; Gögele, M.* ; Concas, M.P.* ; Tanaka, T.* ; Bandinelli, S.* ; Nalls, M.A.* ; Singleton, A.* ; Tajuddin, S.M.* ; Adeyemo, A.* ; Zhou, J.* ; Doumatey, A.* ; McWeeney, S.K.* ; Murabito, J.* ; Franceschini, N.* ; Flessner, M.* ; Shlipak, M.G.* ; Wilson, J.G.* ; Chen, G.* ; Rotimi, C.N.* ; Zonderman, A.B.* ; Evans, M.K.* ; Ferrucci, L.* ; Devuyst, O.* ; Pirastu, M.* ; Shuldiner, A.* ; Hicks, A.A.* ; Pramstaller, P.P.* ; Kestenbaum, B.* ; Kardia, S.L.R.* ; Turner, S.T.* ; Study, L.C.* ; Briske, T.E.* ; Gieger, C. ; Strauch, K. ; Meisinger, C. ; Meitinger, T. ; Völker, U.* ; Nauck, M.* ; Völzke, H.* ; Vollenweider, P.* ; Bochud, M.* ; Waeber, G.* ; Kähönen, M.* ; Lehtimäki, T.* ; März, W.* ; Dehghan, A.* ; Franco, O.H.* ; Uitterlinden, A.G.* ; Hofman, A.* ; Taylor, H.A.* ; Chambers, J.C.* ; Kooner, J.S.* ; Fox, C.S.* ; Hitzemann, R.* ; Orwoll, E.S.* ; Pattaro, C.* ; Schlessinger, D.* ; Köttgen, A.* ; Snieder, H.* ; Parsa, A.* ; Cohen, D.M.*

NFAT5 and SLC4A10 loci associate with plasma osmolality.

J. Am. Soc. Nephrol. 28, 2311-2321 (2017)

Publ. Version/Full Text

DOI

PMC

	Open Access Gold

Abstract
Metrics
Extra information

Disorders of water balance, an excess or deficit of total body water relative to body electrolyte content, are common and ascertained by plasma hypo- or hypernatremia, respectively. We performed a two-stage genome-wide association study meta-analysis on plasma sodium concentration in 45,889 individuals of European descent (stage 1 discovery) and 17,637 additional individuals of European descent (stage 2 replication), and a transethnic meta-analysis of replicated single-nucleotide polymorphisms in 79,506 individuals (63,526 individuals of European descent, 8765 individuals of Asian Indian descent, and 7215 individuals of African descent). In stage 1, we identified eight loci associated with plasma sodium concentration at P<5.0 × 10(-6) Of these, rs9980 at NFAT5 replicated in stage 2 meta-analysis (P=3.1 × 10(-5)), with combined stages 1 and 2 genome-wide significance of P=5.6 × 10(-10) Transethnic meta-analysis further supported the association at rs9980 (P=5.9 × 10(-12)). Additionally, rs16846053 at SLC4A10 showed nominally, but not genome-wide, significant association in combined stages 1 and 2 meta-analysis (P=6.7 × 10(-8)). NFAT5 encodes a ubiquitously expressed transcription factor that coordinates the intracellular response to hypertonic stress but was not previously implicated in the regulation of systemic water balance. SLC4A10 encodes a sodium bicarbonate transporter with a brain-restricted expression pattern, and variant rs16846053 affects a putative intronic NFAT5 DNA binding motif. The lead variants for NFAT5 and SLC4A10 are cis expression quantitative trait loci in tissues of the central nervous system and relevant to transcriptional regulation. Thus, genetic variation in NFAT5 and SLC4A10 expression and function in the central nervous system may affect the regulation of systemic water balance.

Impact Factor

Scopus SNIP

Web of Science
Times Cited

Scopus
Cited By

Altmetric

8.966

2.233