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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Pattaro, Cristian and Teumer, Alexander and Gorski, Mathias and Chu, Audrey Y. and Li, Man and Mijatovic, Vladan and Garnaas, Maija and Tin, Adrienne and Sorice, Rossella and Li, Yong and Taliun, Daniel and Olden, Matthias and Foster, Meredith and Yang, Qiong and Chen, Ming-Huei and Pers, Tune H. and Johnson, Andrew D. and Ko, Yi-An and Fuchsberger, Christian and Tayo, Bamidele and Nalls, Michael and Feitosa, Mary F. and Isaacs, Aaron and Dehghan, Abbas and d'Adamo, Pio and Adeyemo, Adebowale and Dieffenbach, Aida Karina and Zonderman, Alan B. and Nolte, Ilja M. and van der Most, Peter J. and Wright, Alan F. and Shuldiner, Alan R. and Morrison, Alanna C. and Hofman, Albert and Smith, Albert V. and Dreisbach, Albert W. and Franke, Andre and Uitterlinden, Andre G. and Metspalu, Andres and Tonjes, Anke and Lupo, Antonio and Robino, Antonietta and Johansson, Åsa and Demirkan, Ayse and Kollerits, Barbara and Freedman, Barry I. and Ponte, Belen and Oostra, Ben A. and Paulweber, Bernhard and Krämer, Bernhard K. and Mitchell, Braxton D. and Buckley, Brendan M. and Peralta, Carmen A. and Hayward, Caroline and Helmer, Catherine and Rotimi, Charles N. and Shaffer, Christian M. and Müller, Christian and Sala, Cinzia and van Duijn, Cornelia M. and Saint-Pierre, Aude and Ackermann, Daniel and Shriner, Daniel and Ruggiero, Daniela and Toniolo, Daniela and Lu, Yingchang and Cusi, Daniele and Czamara, Darina and Ellinghaus, David and Siscovick, David S. and Ruderfer, Douglas and Gieger, Christian and Grallert, Harald and Rochtchina, Elena and Atkinson, Elizabeth J. and Holliday, Elizabeth G. and Boerwinkle, Eric and Salvi, Erika and Bottinger, Erwin P. and Murgia, Federico and Rivadeneira, Fernando and Ernst, Florian and Kronenberg, Florian and Hu, Frank B. and Navis, Gerjan J. and Curhan, Gary C. and Ehret, George B. and Homuth, Georg and Coassin, Stefan and Thun, Gian-Andri and Pistis, Giorgio and Gambaro, Giovanni and Malerba, Giovanni and Montgomery, Grant W. and Eiriksdottir, Gudny and Jacobs, Gunnar and Li, Guo and Wichmann, H-Erich and Campbell, Harry and Schmidt, Helena and Wallaschofski, Henri and Völzke, Henry and Brenner, Hermann and Kroemer, Heyo K. and Kramer, Holly and Lin, Honghuang and Mateo Leach, I. and Ford, Ian and Guessous, Idris and Rudan, Igor and Prokopenko, Inga and Borecki, Ingrid and Heid, Iris M. and Kolcic, Ivana and Persico, Ivana and Jukema, J. Wouter and Wilson, James F. and Felix, Janine F. and Divers, Jasmin and Lambert, Jean-Charles and Stafford, Jeanette M. and Gaspoz, Jean-Michel and Smith, Jennifer A. and Faul, Jessica D. and Wang, Jie Jin and Ding, Jingzhong and Hirschhorn, Joel N. and Attia, John and Whitfield, John B. and Chalmers, John and Viikari, Jorma and Coresh, Josef and Denny, Joshua C. and Karjalainen, Juha and Fernandes, Jyotika K. and Endlich, Karlhans and Butterbach, Katja and Keene, Keith L. and Lohman, Kurt and Portas, Laura and Launer, Lenore J. and Lyytikäinen, Leo-Pekka and Yengo, Loic and Franke, Lude and Ferrucci, Luigi and Rose, Lynda M. and Kedenko, Lyudmyla and Rao, Madhumathi and Struchalin, Maksim and Kleber, Marcus E. and Cavalieri, Margherita and Haun, Margot and Cornelis, Marilyn C. and Ciullo, Marina and Pirastu, Mario and de Andrade, Mariza and McEvoy, Mark A. and Woodward, Mark and Adam, Martin and Cocca, Massimiliano and Nauck, Matthias and Imboden, Medea and Waldenberger, Melanie and Pruijm, Menno and Metzger, Marie and Stumvoll, Michael and Evans, Michele K. and Sale, Michele M. and Kähönen, Mika and Boban, Mladen and Bochud, Murielle and Rheinberger, Myriam and Verweij, Niek and Bouatia-Naji, Nabila and Martin, Nicholas G. and Hastie, Nick and Probst-Hensch, Nicole and Soranzo, Nicole and Devuyst, Olivier and Raitakari, Olli and Gottesman, Omri and Franco, Oscar H. and Polasek, Ozren and Gasparini, Paolo and Munroe, Patricia B. and Ridker, Paul M. and Mitchell, Paul and Muntner, Paul and Meisinger, Christa and Smit, Johannes H. and Icbp Consortium, and Agen Consortium, and Cardiogram, and Charge-Heart Failure Group, and Echogen Consortium, and Kovacs, Peter and Wild, Philipp S. and Froguel, Philippe and Rettig, Rainer and Mägi, Reedik and Biffar, Reiner and Schmidt, Reinhold and Middelberg, Rita P. S. and Carroll, Robert J. and Penninx, Brenda W. and Scott, Rodney J. and Katz, Ronit and Sedaghat, Sanaz and Wild, Sarah H. and Kardia, Sharon L. R. and Ulivi, Sheila and Hwang, Shih-Jen and Enroth, Stefan and Kloiber, Stefan and Trompet, Stella and Stengel, Benedicte and Hancock, Stephen J. and Turner, Stephen T. and Rosas, Sylvia E. and Stracke, Sylvia and Harris, Tamara B. and Zeller, Tanja and Zemunik, Tatijana and Lehtimäki, Terho and Illig, Thomas and Aspelund, Thor and Nikopensius, Tiit and Esko, Tonu and Tanaka, Toshiko and Gyllensten, Ulf and Völker, Uwe and Emilsson, Valur and Vitart, Veronique and Aalto, Ville and Gudnason, Vilmundur and Chouraki, Vincent and Chen, Wei-Min and Igl, Wilmar and März, Winfried and Koenig, Wolfgang and Lieb, Wolfgang and Loos, Ruth J. F. and Liu, Yongmei and Snieder, Harold and Pramstaller, Peter P. and Parsa, Afshin and O'Connell, Jeffrey R. and Susztak, Katalin and Hamet, Pavel and Tremblay, Johanne and de Boer, Ian H. and Böger, Carsten A. and Goessling, Wolfram and Chasman, Daniel I. and Köttgen, Anna and Kao, W. H. Linda and Fox, Caroline S.. (2016) Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nature communications, 7. p. 10023.

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Abstract

Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.
Faculties and Departments:09 Associated Institutions > Swiss Tropical and Public Health Institute (Swiss TPH)
09 Associated Institutions > Swiss Tropical and Public Health Institute (Swiss TPH) > Department of Epidemiology and Public Health (EPH) > Chronic Disease Epidemiology > Exposome Science (Probst-Hensch)
03 Faculty of Medicine > Departement Public Health > Sozial- und Präventivmedizin > Exposome Science (Probst-Hensch)
UniBasel Contributors:Probst Hensch, Nicole
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Nature Publishing Group
ISSN:2041-1723
Note:Publication type according to Uni Basel Research Database: Journal article
Language:English
Identification Number:
edoc DOI:
Last Modified:30 Jun 2016 11:03
Deposited On:22 Mar 2016 16:13

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