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Genome-wide association and functional follow-up reveals new loci for kidney function

Pattaro, C. and Kottgen, A. and Teumer, A. and Garnaas, M. and Boger, C. A. and Fuchsberger, C. and Olden, M. and Chen, M. H. and Tin, A. and Taliun, D. and Li, M. and Gao, X. and Gorski, M. and Yang, Q. and Hundertmark, C. and Foster, M. C. and O'Seaghdha, C. M. and Glazer, N. and Isaacs, A. and Liu, C. T. and Smith, A. V. and O'Connell, J. R. and Struchalin, M. and Tanaka, T. and Li, G. and Johnson, A. D. and Gierman, H. J. and Feitosa, M. and Hwang, S. J. and Atkinson, E. J. and Lohman, K. and Cornelis, M. C. and Johansson, A. and Tonjes, A. and Dehghan, A. and Chouraki, V. and Holliday, E. G. and Sorice, R. and Kutalik, Z. and Lehtimaki, T. and Esko, T. and Deshmukh, H. and Ulivi, S. and Chu, A. Y. and Murgia, F. and Trompet, S. and Imboden, M. and Kollerits, B. and Pistis, G. and Harris, T. B. and Launer, L. J. and Aspelund, T. and Eiriksdottir, G. and Mitchell, B. D. and Boerwinkle, E. and Schmidt, H. and Cavalieri, M. and Rao, M. and Hu, F. B. and Demirkan, A. and Oostra, B. A. and de, A. M. and Turner, S. T. and Ding, J. and Andrews, J. S. and Freedman, B. I. and Koenig, W. and Illig, T. and Doring, A. and Wichmann, H. E. and Kolcic, I. and Zemunik, T. and Boban, M. and Minelli, C. and Wheeler, H. E. and Igl, W. and Zaboli, G. and Wild, S. H. and Wright, A. F. and Campbell, H. and Ellinghaus, D. and Nothlings, U. and Jacobs, G. and Biffar, R. and Endlich, K. and Ernst, F. and Homuth, G. and Kroemer, H. K. and Nauck, M. and Stracke, S. and Volker, U. and Volzke, H. and Kovacs, P. and Stumvoll, M. and Magi, R. and Hofman, A. and Uitterlinden, A. G. and Rivadeneira, F. and Aulchenko, Y. S. and Polasek, O. and Hastie, N. and Vitart, V. and Helmer, C. and Wang, J. J. and Ruggiero, D. and Bergmann, S. and Kahonen, M. and Viikari, J. and Nikopensius, T. and Province, M. and Ketkar, S. and Colhoun, H. and Doney, A. and Robino, A. and Giulianini, F. and Kramer, B. K. and Portas, L. and Ford, I. and Buckley, B. M. and Adam, M. and Thun, G. A. and Paulweber, B. and Haun, M. and Sala, C. and Metzger, M. and Mitchell, P. and Ciullo, M. and Kim, S. K. and Vollenweider, P. and Raitakari, O. and Metspalu, A. and Palmer, C. and Gasparini, P. and Pirastu, M. and Jukema, J. W. and Probst-Hensch, N. M. and Kronenberg, F. and Toniolo, D. and Gudnason, V. and Shuldiner, A. R. and Coresh, J. and Schmidt, R. and Ferrucci, L. and Siscovick, D. S. and van, Duijn and Borecki, I. and Kardia, S. L. and Liu, Y. and Curhan, G. C. and Rudan, I. and Gyllensten, U. and Wilson, J. F. and Franke, A. and Pramstaller, P. P. and Rettig, R. and Prokopenko, I. and Witteman, J. C. and Hayward, C. and Ridker, P. and Parsa, A. and Bochud, M. and Heid, I. M. and Goessling, W. and Chasman, D. I. and Kao, W. H. and Fox, C. S.. (2012) Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS genetics, Vol. 8, H. 3 , e1002584.

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Official URL: http://edoc.unibas.ch/dok/A6094191

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Abstract

Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD
Faculties and Departments:09 Associated Institutions > Swiss Tropical and Public Health Institute (Swiss TPH) > Department of Epidemiology and Public Health (EPH) > Chronic Disease Epidemiology
UniBasel Contributors:Imboden, Medea
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Public Library of Science
ISSN:1553-7390
Note:Publication type according to Uni Basel Research Database: Journal article
Language:English
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Last Modified:31 Dec 2015 10:53
Deposited On:19 Jul 2013 07:40

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