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

Pattaro, Cristian; Köttgen, Anna; Teumer, Alexander; Böger, Carsten; Fuchsberger, Christian; Olden, Matthias; Chen, Ming-Huei; Li, Man; Gao, Xiaoyi; Gorski, Mathias; Yang, Qiong Fang; O'Seaghdha, Conall; Glazer, Nicole; Isaacs, Aaron; Liu, Ching-Ti; Smith, Albert Vernon; O´Connell, J.R.; Struchalin, Maksim; Tanaka, Toshiko; Johnson, Andrew; Feitosa, Mary Furlan; Hwang, S.J.; Lohman, Kurt; Cornelis, Marilyn; Johansson, Åsa; Tönjes, Anke; Dehghan, Abbas; Chouraki, Vincent; Holliday, Elizabeth; Sorice, R.; Kutalik, Zoltán; Lehtimäki, Terho; Esko, Tõnu; Ulivi, Shelia; Trompet, Stella; Imboden, Medea; Kollerits, Barbara; Pistis, Giorgio; Harris, Tamara; Launer, Lenore; Aspelund, Thor; Eiriksdottir, Gudny; Mitchell, Braxton; Boerwinkle, Eric; Schmidt, Reinhold; Cavalieri, Margherita; Hu, Frank; Demirkan, Ayşe; Oostra, Ben; de Andrade, Mariza; Andrews, Jeanette; Koenig, Wolfgang; Illig, Thomas; Döring, Angela; Wichmann, Erich; Kolcic, Ivana; Zemunik, Tatijana; Boban, Mladen; Igl, Wilmar; Zaboli, Ghazal; Wild, Sarah; Wright, Alan; Campbell, Harry; Biffar, Reiner; Ernst, Florian; Homuth, Georg; Kroemer, Heyo; Nauck, Matthias; Kovacs, Peter; Stumvoll, Michael; Mägi, Reedik; Hofman, Albert; Uitterlinden, André; Rivadeneira Ramirez, Fernando; Aulchenko, Yurii; Polasek, Ozren; Hastie, Nick; Vitart, Veronique; Wang, Jie Jin; Bergmann, Sven; Kähönen, Mika; Viikari, Jorma; Province, Mike; Ketkar, Shamika; Doney, Alex; Ford, Ian; Buckley, Brendan M.; Paulweber, Bernhard; Haun, Margot; Sala, Cinzia; Ciullo, M.; Vollenweider, Peter; Raitakari, Olli; Metspalu, Andres; Palmer, Colin; Gasparini, Paolo; Jukema, Jan Wouter; Kronenberg, Florian; Toniolo, Daniela; Gudnason, Vilmundur; Shuldiner, Alan; Coresh, Josef; Ferrucci, Luigi; Siscovick, David; Tikka-Kleemola, Päivi; Borecki, Ingrid; Kardia, Sharon; Curhan, Gary; Rudan, Igor; Gyllensten, Ulf; Wilson, James; Franke, Andre; Pramstaller, Peter Paul; Rettig, Rainer; Prokopenko, Inga; Witteman, Jacqueline; Hayward, Caroline; Ridker, Paul; Parsa, Afshin; Bochud, Murielle; Heid, Iris; Goessling, Wolfram; Chasman, Daniel; Kao, Wen; Fox, Caroline

doi:10.1371/journal.pgen.1002584

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.

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Persistent URL	doi.org/10.1371/journal.pgen.1002584, hdl.handle.net/1765/37913
Journal	PL o S Genetics (Online)
Grant	This work was funded by the European Commission 7th Framework Programme; grant id fp7/201413 - European Network for Genetic and Genomic Epidemiology (ENGAGE), This work was funded by the European Commission 7th Framework Programme; grant id fp7/212111 - Biobanking and Biomolecular Resources Research Infrastructure (BBMRI), This work was funded by the European Commission 7th Framework Programme; grant id fp7/205419 - Unlocking the European Union convergence region potential in genetics (ECOGENE), This work was funded by the European Commission 7th Framework Programme; grant id fp7/245536 - Opening Estonian Genome Project for European Research Area (OPENGENE)
Organisation	Epidemiology of Diseases
Citation APA Style AAA Style APA Style Cell Style Chicago Style Harvard Style IEEE Style MLA Style Nature Style Vancouver Style American-Institute-of-Physics Style Council-of-Science-Editors Style BibTex Format Endnote Format RIS Format CSL Format DOIs only Format	Pattaro, C., Köttgen, A., Teumer, A., Böger, C., Fuchsberger, C., Olden, M., … Fox, C. (2012). Genome-wide association and functional follow-up reveals new loci for kidney function. PL o S Genetics (Online), 8(3). doi:10.1371/journal.pgen.1002584

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

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