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Genome-wide association and functional follow-up reveals new loci for kidney function.
| File | Description | Size | Format | |
|---|---|---|---|---|
 Genome-wide association and functional follow-up reveals new loci for kidney function.pdf | Published version | 2.66 MB | Adobe PDF | View/Open |
| Title: | Genome-wide association and functional follow-up reveals new loci for kidney function. |
| Authors: | Pattaro, C Köttgen, A Teumer, A Garnaas, M Böger, CA Fuchsberger, C Olden, M Chen, MH Tin, A Taliun, D Li, M Gao, X Gorski, M Yang, Q Hundertmark, C Foster, MC O'Seaghdha, CM Glazer, N Isaacs, A Liu, CT Smith, AV O'Connell, JR Struchalin, M Tanaka, T Li, G Johnson, AD Gierman, HJ Feitosa, M Hwang, SJ Atkinson, EJ Lohman, K Cornelis, MC Johansson, Å Tönjes, A Dehghan, A Chouraki, V Holliday, EG Sorice, R Kutalik, Z Lehtimäki, T Esko, T Deshmukh, H Ulivi, S Chu, AY Murgia, F Trompet, S Imboden, M Kollerits, B Pistis, G CARDIoGRAM Consortium ICBP Consortium CARe Consortium Wellcome Trust Case Control Consortium 2 (WTCCC2) Harris, TB Launer, LJ Aspelund, T Eiriksdottir, G Mitchell, BD Boerwinkle, E Schmidt, H Cavalieri, M Rao, M Hu, FB Demirkan, A Oostra, BA De Andrade, M Turner, ST Ding, J Andrews, JS Freedman, BI Koenig, W Illig, T Döring, A Wichmann, HE Kolcic, I Zemunik, T Boban, M Minelli, C Wheeler, HE Igl, W Zaboli, G Wild, SH Wright, AF Campbell, H Ellinghaus, D Nöthlings, U Jacobs, G Biffar, R Endlich, K Ernst, F Homuth, G Kroemer, HK Nauck, M Stracke, S Völker, U Völzke, H Kovacs, P Stumvoll, M Mägi, R Hofman, A Uitterlinden, AG Rivadeneira, F Aulchenko, YS Polasek, O Hastie, N Vitart, V Helmer, C Wang, JJ Ruggiero, D Bergmann, S Kähönen, M Viikari, J Nikopensius, T Province, M Ketkar, S Colhoun, H Doney, A Robino, A Giulianini, F Krämer, BK Portas, L Ford, I Buckley, BM Adam, M Thun, GA Paulweber, B Haun, M Sala, C Metzger, M Mitchell, P Ciullo, M Kim, SK Vollenweider, P Raitakari, O Metspalu, A Palmer, C Gasparini, P Pirastu, M Jukema, JW Probst-Hensch, NM Kronenberg, F Toniolo, D Gudnason, V Shuldiner, AR Coresh, J Schmidt, R Ferrucci, L Siscovick, DS Van Duijn, CM Borecki, I Kardia, SL Liu, Y Curhan, GC Rudan, I Gyllensten, U Wilson, JF Franke, A Pramstaller, PP Rettig, R Prokopenko, I Witteman, JC Hayward, C Ridker, P Parsa, A Bochud, M Heid, IM Goessling, W Chasman, DI Kao, WH Fox, CS |
| Item Type: | Journal Article |
| 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. © 2012 Pattaro et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
| Issue Date: | 1-Mar-2012 |
| URI: | http://hdl.handle.net/10044/1/28589 |
| DOI: | https://dx.doi.org/10.1371/journal.pgen.1002584 |
| Start Page: | e1002584 |
| Journal / Book Title: | PLoS Genet |
| Volume: | 8 |
| Issue: | 3 |
| Copyright Statement: | © 2012 Pattaro et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
| Keywords: | African Americans Aged Animals Caspase 9 Cyclin-Dependent Kinases DEAD-box RNA Helicases DNA Helicases European Continental Ancestry Group Female Follow-Up Studies Gene Knockdown Techniques Genome-Wide Association Study Glomerular Filtration Rate Humans Kidney Kidney Failure, Chronic Male Middle Aged Phosphoric Diester Hydrolases Zebrafish CARDIoGRAM Consortium ICBP Consortium CARe Consortium Wellcome Trust Case Control Consortium 2 (WTCCC2) Developmental Biology 0604 Genetics |
| Publication Status: | Published |
| Conference Place: | United States |
| Appears in Collections: | National Heart and Lung Institute National Heart and Lung Institute |