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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)
Verlagsversion DOI PMC
Open Access Gold
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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Human Genetics ; Hypernatremia ; Hyponatremia ; Water-electrolyte Balance
Sprache englisch
Veröffentlichungsjahr 2017
HGF-Berichtsjahr 2017
ISSN (print) / ISBN 1046-6673
e-ISSN 1533-3450
Zeitschrift Journal of the American Society of Nephrology
Quellenangaben Band: 28, Heft: 8, Seiten: 2311-2321 Artikelnummer: , Supplement: ,
Verlag American Society of Nephrology
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology (EPI)
Institute of Human Genetics (IHG)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30202 - Environmental Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-504100-001
G-504000-001
G-504000-006
G-504091-004
G-500700-001
DOI 10.1681/ASN.2016080892
WOS ID WOS:000406570500009
Scopus ID 85026510349
PubMed ID 28360221
Erfassungsdatum 2017-09-25
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