PuSH - Publikationsserver des Helmholtz Zentrums München

Export: TXT Text RIS Endnote (RIS) BIB BibTeX
Parsa, A.* ; Fuchsberger, C.* ; Köttgen, A.* ; O'Seaghdha, C.M.* ; Pattaro, C.* ; de Andrade, M.* ; Chasman, D.I.* ; Teumer, A.* ; Endlich, K.* ; Olden, M.* ; Chen, M.H.* ; Tin, A.* ; Kim, Y.J.* ; Taliun, D.* ; Li, M.* ; Feitosa, M.* ; Gorski, M.* ; Yang, Q.* ; Hundertmark, C.* ; Foster, M.C.* ; Glazer, N.* ; Isaacs, A.* ; Rao, M.* ; Smith, A.V.* ; O'Connell, J.R.* ; Struchalin, M.* ; Tanaka, T.* ; Li, G.* ; Hwang, S.J.* ; Atkinson, E.J.* ; Lohman, K.* ; Cornelis, M.C.* ; Johansson, A.* ; Tönjes, A.* ; Dehghan, A.* ; Couraki, V.* ; Holliday, E.G.* ; Sorice, R.* ; Kutalik, Z.* ; Lehtimäki, T.* ; Esko, T.* ; Deshmukh, H.* ; Ulivi, S.* ; Chu, A.Y.* ; Murgia, F.* ; Trompet, S.* ; Imboden, M.* ; Kollerits, B.* ; Pistis, G.* ; Harris, T.B.* ; Launer, L.J.* ; Aspelund, T.* ; Eiriksdottir, G.* ; Mitchell, B.D.* ; Boerwinkle, E.* ; Schmidt, H.* ; Hofer, E.* ; Hu, F.* ; Demirkan, A.* ; Oostra, B.A.* ; Turner, S.T.* ; Ding, J.* ; Andrews, J.S.* ; Freedman, B.I.* ; Giulianini, F.* ; Koenig, W.* ; Illig, T. ; Döring, A. ; Wichmann, H.-E. ; Zgaga, L.* ; Zemunik, T.* ; Boban, M.* ; Minelli, C.* ; Wheeler, H.E.* ; Igl, W.* ; Zaboli, G.* ; Wild, S.H.* ; Wright, A.F.* ; Campbell, H.* ; Ellinghaus, D.* ; Nöthlings, U.* ; Jacobs, G.* ; Biffar, R.* ; Ernst, F.* ; Homuth, G.* ; Kroemer, H.K.* ; Nauck, M.* ; Stracke, S.* ; Völker, U.* ; Völzke, H.* ; Kovacs, P.* ; Stumvoll, M.* ; Mägi, R.* ; Hofman, A.* ; Uitterlinden, A.G.* ; Rivadeneira, F.* ; Aulchenko, Y.S.* ; Polasek, O.* ; Hastie, N.* ; Vitart, V.* ; Helmer, C.* ; Wang, J.J.* ; Stengel, B.* ; Ruggiero, D.* ; Bergmann, S.* ; Kähönen, M.* ; Viikari, J.* ; Nikopensius, T.* ; Province, M.* ; Colhoun, H.* ; Doney, A.* ; Robino, A.* ; Krämer, B.K.* ; Portas, L.* ; Ford, I.* ; Buckley, B.M.* ; Adam, M.* ; Thun, G.A.* ; Paulweber, B.* ; Haun, M.* ; Sala, C.* ; Mitchell, P.* ; Ciullo, M.* ; Vollenweider, P.* ; Raitakari, O.* ; Metspalu, A.* ; Palmer, C.* ; Gasparini, P.* ; Pirastu, M.* ; Jukema, J.W.* ; Probst-Hensch, N.M.* ; Kronenberg, F.* ; Toniolo, D.* ; Gudnason, V.* ; Shuldiner, A.R.* ; Coresh, J.* ; Schmidt, R.* ; Ferrucci, L.* ; van Duijn, C.M.* ; Borecki, I.* ; Kardia, S.L.* ; Liu, Y.* ; Curhan, G.C.* ; Rudan, I.* ; Gyllensten, U.* ; Wilson, J.F.* ; Franke, A.* ; Pramstaller, P.P.* ; Rettig, R.* ; Prokopenko, I.* ; Witteman, J.* ; Hayward, C.* ; Ridker, P.M.* ; Bochud, M.* ; Heid, I.M. ; Siscovick, D.S.* ; Fox, C.S.* ; Kao, W.L.* ; Böger, C.A.*

Common variants in mendelian kidney disease genes and their association with renal function.

J. Am. Soc. Nephrol. 24, 2105-2117 (2013)
Verlagsversion Volltext DOI PMC
Open Access Gold
Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2 meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research.
Impact Factor
Scopus SNIP
Web of Science
Times Cited
Scopus
Cited By
Altmetric
8.987
2.761
22
26
Tags
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern

Zusatzinfos bearbeiten
Eigene Tags bearbeiten
Privat
Eigene Anmerkung bearbeiten
Privat
Auf Publikationslisten für
Homepage nicht anzeigen
Als besondere Publikation
markieren
Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Community-based Population; Blood-pressure; Metaanalysis; Loci; Hypertension; Nephropathy; Proteinuria; Progression; Predictors; Adjustment
Sprache englisch
Veröffentlichungsjahr 2013
HGF-Berichtsjahr 2013
ISSN (print) / ISBN 1046-6673
e-ISSN 1533-3450
Zeitschrift Journal of the American Society of Nephrology
Quellenangaben Band: 24, Heft: 12, Seiten: 2105-2117 Artikelnummer: , Supplement: ,
Verlag American Society of Nephrology
Begutachtungsstatus Peer reviewed
Institut(e) Research Unit Molecular Epidemiology (AME)
Institute of Epidemiology (EPI)
Institute of Genetic Epidemiology (IGE)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30202 - Environmental Health
30503 - Chronic Diseases of the Lung and Allergies
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-504200-001
G-504000-002
G-503900-001
G-504100-001
G-504090-001
PubMed ID 24029420
DOI 10.1681/ASN.2012100983
WOS ID WOS:000328817300021
Scopus ID 84889074946
Erfassungsdatum 2013-12-18
[➜Korrektur melden]