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Gorski, M.* ; van der Most, P.J.* ; Teumer, A.* ; Chu, A.Y.* ; Li, M.* ; Mijatovic, V.* ; Nolte, I.M.* ; Cocca, M.* ; Taliun, D.* ; Gomez, F.* ; Li, Y.* ; Tayo, B.O.* ; Tin, A.* ; Feitosa, M.F.* ; Aspelund, T.* ; Attia, J.* ; Biffar, R.* ; Bochud, M.* ; Boerwinkle, E.* ; Borecki, I.* ; Bottinger, E.P.* ; Chen, M.H.* ; Chouraki, V.* ; Ciullo, M.* ; Coresh, J.* ; Cornelis, M.C.* ; Curhan, G.C.* ; d'Adamo, A.P.* ; Dehghan, A.* ; Dengler, L.* ; Ding, J.* ; Eiriksdottir, G.* ; Endlich, K.* ; Enroth, S.* ; Esko, T.* ; Franco, O.H.* ; Gasparini, P.* ; Gieger, C. ; Girotto, G.* ; Gottesman, O.* ; Gudnason, V.* ; Gyllensten, U.* ; Hancock, S.J.* ; Harris, T.B.* ; Helmer, C.* ; Höllerer, S.* ; Hofer, E.* ; Hofman, A.* ; Holliday, E.G.* ; Homuth, G.* ; Hu, F.B.* ; Huth, C. ; Hutri-Kähönen, N.* ; Hwang, S.J.* ; Imboden, M.* ; Johansson, Å* ; Kähönen, M.* ; König, W.* ; Kramer, H.* ; Krämer, B.K.* ; Kumar, A.* ; Kutalik, Z.* ; Lambert, J.C.* ; Launer, L.J.* ; Lehtimäki, T.* ; de Borst, M.H.* ; Navis, G.* ; Swertz, M.A.* ; Liu, Y.* ; Lohman, K.* ; Loos, R.J.F.* ; Lu, Y.* ; Lyytikäinen, L.-P.* ; McEvoy, M.A.* ; Meisinger, C. ; Meitinger, T. ; Metspalu, A.* ; Metzger, M.* ; Mihailov, E.* ; Mitchell, P.* ; Nauck, M.* ; Oldehinkel, A.J.* ; Olden, M.* ; Wjh Penninx, B.* ; Pistis, G.* ; Pramstaller, P.P.* ; Probst-Hensch, N.* ; Raitakari, O.T.* ; Rettig, R.* ; Ridker, P.M.* ; Rivadeneira, F.* ; Robino, A.* ; Rosas, S.E.* ; Ruderfer, D.* ; Ruggiero, D.* ; Saba, Y.* ; Sala, C.* ; Schmidt, H.* ; Schmidt, R.* ; Scott, R.J.* ; Sedaghat, S.* ; Smith, A.V.* ; Sorice, R.* ; Stengel, B.* ; Stracke, S.* ; Strauch, K. ; Toniolo, D.* ; Uitterlinden, A.G.* ; Ulivi, S.* ; Viikari, J.S.* ; Völker, U.* ; Vollenweider, P.* ; Völzke, H.* ; Vuckovic, D.* ; Waldenberger, M. ; Jin Wang, J.* ; Yang, Q.* ; Chasman, D.I.* ; Tromp, G.* ; Snieder, H.* ; Heid, I.M.* ; Fox, C.S.* ; Köttgen, A.* ; Pattaro, C.* ; Böger, C.A.* ; Fuchsberger, C.*

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

Sci. Rep. 7:45040 (2017)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. To investigate the value of such a more complete variant catalog, we conducted a GWAS meta-analysis of kidney function based on the estimated glomerular filtration rate (eGFR) in 110,517 European ancestry participants using 1000 Genomes imputed data. We identified 10 novel loci with p-value < 5 × 10(-8) previously missed by HapMap-based GWAS. Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. Using pathway analysis, we identified 39 significant (FDR < 0.05) genes and 127 significantly (FDR < 0.05) enriched gene sets, which were missed by our previous analyses. Among those, the 10 identified novel genes are part of pathways of kidney development, carbohydrate metabolism, cardiac septum development and glucose metabolism. These results highlight the utility of re-imputing from denser reference panels, until whole-genome sequencing becomes feasible in large samples.
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Publication type Article: Journal article
Document type Scientific Article
Language
Publication Year 2017
HGF-reported in Year 2017
ISSN (print) / ISBN 2045-2322
e-ISSN 2045-2322
Journal Scientific Reports
Quellenangaben Volume: 7, Issue: , Pages: , Article Number: 45040 Supplement: ,
Publisher Nature Publishing Group
Publishing Place London
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
Institute of Genetic Epidemiology (IGE)
Institute of Human Genetics (IHG)
POF-Topic(s) 30202 - Environmental Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-504091-004
G-504091-001
G-504000-002
G-504000-006
G-504100-001
G-500700-001
DOI 10.1038/srep45040
WOS ID WOS:000400432700001
PubMed ID 28452372
Erfassungsdatum 2017-05-30
[➜Report correction]