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Li, M.* ; Li, Y.* ; Weeks, O.* ; Mijatovic, V.* ; Teumer, A.* ; Huffman, J.E.* ; Tromp, G.* ; Fuchsberger, C.* ; Gorski, M.* ; Lyytikäinen, L.-P.* ; Nutile, T.* ; Sedaghat, S.* ; Sorice, R.* ; Tin, A.* ; Yang, Q.* ; Ahluwalia, T.S.* ; Arking, D.E.* ; Bihlmeyer, N.A.* ; Boeger, C.A.* ; Carroll, R.J.* ; Chasman, D.I.* ; Comelis, M.C.* ; Dehghan, A.* ; Faul, J.D.* ; Feitosa, M.F.* ; Gambaro, G.* ; Gasparini, P.* ; Giulianini, F.* ; Heid, I.M. ; Huang, J.* ; Imboden, M.* ; Jackson, A.U.* ; Jeff, J.* ; Jhun, M.A.* ; Katz, R.* ; Kifley, A.* ; Kilpeläinen, T.O.* ; Kumar, A.* ; Laakso, M.* ; Li-Gao, R.* ; Lohman, K.* ; Lu, Y.* ; Maegi, R.* ; Malerba, G.* ; Mihailov, E.* ; Mohlke, K.L.* ; Mook-Kanamori, D.O.* ; Robino, A.* ; Ruderfer, D.* ; Salvi, E.* ; Schick, U.M.* ; Schulz, C.* ; Smith, A.V.* ; Smith, J.A.* ; Traglia, M.* ; Yerges-Armstrong, L.M.* ; Zhao, W.* ; Goodarzi, M.O.* ; Kraja, A.T.* ; Liu, C.* ; Wessel, J.* ; Boerwinkle, E.* ; Borecki, I.B.* ; Bork-Jensen, J.* ; Bottinger, E.P.* ; Braga, D.* ; Brandslund, I.* ; Brody, J.A.* ; Campbell, A.* ; Carey, D.J.* ; Christensen, C.* ; Coresh, J.* ; Crook, E.D.* ; Curhan, G.C.* ; Cusi, D.* ; de Boer, I.H.* ; de Vries, A.P.J.* ; Denny, J.C.* ; Devuyst, O.* ; Dreisbach, A.W.* ; Endlich, K.* ; Esko, T.* ; Franco, O.H.* ; Fulop, T.* ; Gerhard, G.S.* ; Gluemer, C.* ; Gottesman, O.* ; Grarup, N.* ; Gudnason, V.* ; Hansen, T.* ; Harris, T.B.* ; Hayward, C.* ; Hocking, L.J.* ; Hofman, A.* ; Hu, F.B.* ; Husemoen, L.L.N.* ; Jackson, R.D.* ; Jorgensen, T.* ; Jorgensen, M.E.* ; Kaehoenen, M.* ; Kardia, S.L.R.* ; Koenig, W.* ; Kooperberg, C.* ; Kriebel, J. ; Launer, L.J.* ; Lauritzen, T.* ; Lehtimäki, T.* ; Levy, D.* ; Linksted, P.* ; Linneberg, A.* ; Liu, Y.* ; Loos, R.J.F.* ; Lupo, A.* ; Meisinger, C. ; Melander, O.* ; Metspalu, A.* ; Mitchell, P.* ; Nauck, M.* ; Nuernberg, P.* ; Orho-Melander, M.* ; Parsa, A.* ; Pedersen, O.* ; Peters, A. ; Peters, U.* ; Polasek, O.* ; Porteous, D.J.* ; Probst-Hensch, N.M.* ; Psaty, B.M.* ; Qi, L.* ; Raitakari, O.T.* ; Reiner, A.P.* ; Rettig, R.* ; Ridker, P.M.* ; Rivadeneira, F.* ; Rossouw, J.E.* ; Schmidt, F.* ; Siscovick, D.* ; Soranzo, N.* ; Strauch, K. ; Toniolo, D.* ; Turner, S.T.* ; Uitterlinden, A.G.* ; Ulivi, S.* ; Velayutham, D.* ; Voelker, U.* ; Völzke, H.* ; Waldenberger, M. ; Wang, J.J.* ; Weir, D.R.* ; Witte, D.R.* ; Kuivaniemi, H.* ; Fox, C.S.* ; Franceschini, N.* ; Goessling, W.* ; Koettgen, A.* ; Chu, A.Y.*

SOS2 and ACP1 loci identified through large-scale exome chip analysis regulate kidney development and function.

J. Am. Soc. Nephrol. 28, 981-994 (2017)
Verlagsversion DOI PMC
Open Access Gold
Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium (n(stage1);111,666;n(stage2): 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea (PPM1J, EDEM3, ACP1, SPEG, EYA4, CYP1A1, and ATXN2L; P-stage1<3.7 x10(-7)), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified associations of functional rare variants in three genes with eGFRcrea, including a novel association with the SOS Ras/Rho guanine nucleotide exchange factor 2 gene, SOS2 (P=5.4x 10(-8) by sequence kernel association test). Experimental follow-up in zebrafish embryos revealed changes in glomerular gene expression and renal tubule morphology in the embryonic kidney of acp1- and sos2-knockdowns. These developmental abnormalities associated with altered blood clearance rate and heightened prevalence of edema. This study expands the number of loci associated with kidney function and identifies novel genes with potential roles in kidney formation.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Human Genetics ; Kidney Development ; Renal Function; Low-frequency; Noonan Syndrome; Rare Variants; Sequence Variants; Disease; Association; Metaanalysis; Common; Traits
Sprache
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: 3, Seiten: 981-994 Artikelnummer: , Supplement: ,
Verlag American Society of Nephrology
Verlagsort Washington
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Epidemiology (EPI)
Institute of Genetic Epidemiology (IGE)
POF Topic(s) 30202 - Environmental Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-504000-006
G-504091-001
G-504100-001
DOI 10.1681/ASN.2016020131
WOS ID WOS:000395049000028
Scopus ID 85021851118
PubMed ID 27920155
Erfassungsdatum 2017-04-26
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