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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
Authors :
Pattaro, Cristian Teumer, Alexander Gorski, Mathias Chu, Audrey Y Li, Man Mijatovic, Vladan Garnaas, Maija Tin, Adrienne Sorice, Rossella Li, Yong Taliun, Daniel Olden, Matthias Foster, Meredith Yang, Qiong Chen, Ming-Huei Pers, Tune H Johnson, Andrew D Ko, Yi-An Fuchsberger, Christian Tayo, Bamidele Nalls, Michael Feitosa, Mary F Isaacs, Aaron Dehghan, Abbas d'Adamo, Pio Adeyemo, Adebowale Dieffenbach, Aida Karina Zonderman, Alan B Nolte, Ilja M van der Most, Peter J Wright, Alan F Shuldiner, Alan R Morrison, Alanna C Hofman, Albert Smith, Albert V Dreisbach, Albert W Franke, Andre Uitterlinden, Andre G Metspalu, Andres Tonjes, Anke Lupo, Antonio Robino, Antonietta Johansson, Åsa Demirkan, Ayse Kollerits, Barbara Freedman, Barry I Ponte, Belen Oostra, Ben A Paulweber, Bernhard Krämer, Bernhard K Mitchell, Braxton D Buckley, Brendan M Peralta, Carmen A Hayward, Caroline Helmer, Catherine Rotimi, Charles N Shaffer, Christian M Müller, Christian Sala, Cinzia van Duijn, Cornelia M Saint-Pierre, Aude Ackermann, Daniel Shriner, Daniel Ruggiero, Daniela Toniolo, Daniela Lu, Yingchang Cusi, Daniele Czamara, Darina Ellinghaus, David Siscovick, David S Ruderfer, Douglas Gieger, Christian Grallert, Harald Rochtchina, Elena Atkinson, Elizabeth J Holliday, Elizabeth G Boerwinkle, Eric Salvi, Erika Bottinger, Erwin P Murgia, Federico Rivadeneira, Fernando Ernst, Florian Kronenberg, Florian Hu, Frank B Navis, Gerjan J Curhan, Gary C Ehret, George B Homuth, Georg Coassin, Stefan Thun, Gian-Andri Pistis, Giorgio Gambaro, Giovanni Malerba, Giovanni Montgomery, Grant W Eiriksdottir, Gudny Jacobs, Gunnar Li, Guo Wichmann, H-Erich Campbell, Harry Schmidt, Helena Wallaschofski, Henri Völzke, Henry Brenner, Hermann Kroemer, Heyo K Kramer, Holly Lin, Honghuang Mateo Leach, I Ford, Ian Guessous, Idris Rudan, Igor Prokopenko, Inga Borecki, Ingrid Heid, Iris M Kolcic, Ivana Persico, Ivana Jukema, J Wouter Wilson, James F Felix, Janine F Divers, Jasmin Lambert, Jean-Charles Stafford, Jeanette M Gaspoz, Jean-Michel Smith, Jennifer A Faul, Jessica D Wang, Jie Jin Ding, Jingzhong Hirschhorn, Joel N Attia, John Whitfield, John B Chalmers, John Viikari, Jorma Coresh, Josef Denny, Joshua C Karjalainen, Juha Fernandes, Jyotika K Endlich, Karlhans Butterbach, Katja Keene, Keith L Lohman, Kurt Portas, Laura Launer, Lenore J Lyytikäinen, Leo-Pekka Yengo, Loic Franke, Lude Ferrucci, Luigi Rose, Lynda M Kedenko, Lyudmyla Rao, Madhumathi Struchalin, Maksim Kleber, Marcus E Cavalieri, Margherita Haun, Margot Cornelis, Marilyn C Ciullo, Marina Pirastu, Mario de Andrade, Mariza McEvoy, Mark A Woodward, Mark Adam, Martin Cocca, Massimiliano Nauck, Matthias Imboden, Medea Waldenberger, Melanie Pruijm, Menno Metzger, Marie Stumvoll, Michael Evans, Michele K Sale, Michele M Kähönen, Mika Boban, Mladen Bochud, Murielle Rheinberger, Myriam Verweij, Niek Bouatia-Naji, Nabila Martin, Nicholas G Hastie, Nick Probst-Hensch, Nicole Soranzo, Nicole Devuyst, Olivier Raitakari, Olli Gottesman, Omri Franco, Oscar H Polasek, Ozren Gasparini, Paolo Munroe, Patricia B Ridker, Paul M Mitchell, Paul Muntner, Paul Meisinger, Christa Smit, Johannes H Kovacs, Peter Wild, Philipp S Froguel, Philippe Rettig, Rainer Mägi, Reedik Biffar, Reiner Schmidt, Reinhold Middelberg, Rita P S Carroll, Robert J Penninx, Brenda W Scott, Rodney J Katz, Ronit Sedaghat, Sanaz Wild, Sarah H Kardia, Sharon L R Ulivi, Sheila Hwang, Shih-Jen Enroth, Stefan Kloiber, Stefan Trompet, Stella Stengel, Benedicte Hancock, Stephen J Turner, Stephen T Rosas, Sylvia E Stracke, Sylvia Harris, Tamara B Zeller, Tanja Zemunik, Tatijana Lehtimäki, Terho Illig, Thomas Aspelund, Thor Nikopensius, Tiit Esko, Tonu Tanaka, Toshiko Gyllensten, Ulf Völker, Uwe Emilsson, Valur Vitart, Veronique Aalto, Ville Gudnason, Vilmundur Chouraki, Vincent Chen, Wei-Min Igl, Wilmar März, Winfried Koenig, Wolfgang Lieb, Wolfgang Loos, Ruth J F Liu, Yongmei Snieder, Harold Pramstaller, Peter P Parsa, Afshin O'Connell, Jeffrey R Susztak, Katalin Hamet, Pavel Tremblay, Johanne de Boer, Ian H Böger, Carsten A Goessling, Wolfram Chasman, Daniel I Köttgen, Anna Kao, W H Linda Fox, Caroline S Pattaro, Cristian Teumer, Alexander Gorski, Mathias Chu, Audrey Y Li, Man Mijatovic, Vladan Garnaas, Maija Tin, Adrienne Sorice, Rossella Li, Yong Taliun, Daniel Olden, Matthias Foster, Meredith Yang, Qiong Chen, Ming-Huei Pers, Tune H Johnson, Andrew D Ko, Yi-An Fuchsberger, Christian Tayo, Bamidele Nalls, Michael Feitosa, Mary F Isaacs, Aaron Dehghan, Abbas d'Adamo, Pio Adeyemo, Adebowale Dieffenbach, Aida Karina Zonderman, Alan B Nolte, Ilja M van der Most, Peter J Wright, Alan F Shuldiner, Alan R Morrison, Alanna C Hofman, Albert Smith, Albert V Dreisbach, Albert W Franke, Andre Uitterlinden, Andre G Metspalu, Andres Tonjes, Anke Lupo, Antonio Robino, Antonietta Johansson, Åsa Demirkan, Ayse Kollerits, Barbara Freedman, Barry I Ponte, Belen Oostra, Ben A Paulweber, Bernhard Krämer, Bernhard K Mitchell, Braxton D Buckley, Brendan M Peralta, Carmen A Hayward, Caroline Helmer, Catherine Rotimi, Charles N Shaffer, Christian M Müller, Christian Sala, Cinzia van Duijn, Cornelia M Saint-Pierre, Aude Ackermann, Daniel Shriner, Daniel Ruggiero, Daniela Toniolo, Daniela Lu, Yingchang Cusi, Daniele Czamara, Darina Ellinghaus, David Siscovick, David S Ruderfer, Douglas Gieger, Christian Grallert, Harald Rochtchina, Elena Atkinson, Elizabeth J Holliday, Elizabeth G Boerwinkle, Eric Salvi, Erika Bottinger, Erwin P Murgia, Federico Rivadeneira, Fernando Ernst, Florian Kronenberg, Florian Hu, Frank B Navis, Gerjan J Curhan, Gary C Ehret, George B Homuth, Georg Coassin, Stefan Thun, Gian-Andri Pistis, Giorgio Gambaro, Giovanni Malerba, Giovanni Montgomery, Grant W Eiriksdottir, Gudny Jacobs, Gunnar Li, Guo Wichmann, H-Erich Campbell, Harry Schmidt, Helena Wallaschofski, Henri Völzke, Henry Brenner, Hermann Kroemer, Heyo K Kramer, Holly Lin, Honghuang Mateo Leach, I Ford, Ian Guessous, Idris Rudan, Igor Prokopenko, Inga Borecki, Ingrid Heid, Iris M Kolcic, Ivana Persico, Ivana Jukema, J Wouter Wilson, James F Felix, Janine F Divers, Jasmin Lambert, Jean-Charles Stafford, Jeanette M Gaspoz, Jean-Michel Smith, Jennifer A Faul, Jessica D Wang, Jie Jin Ding, Jingzhong Hirschhorn, Joel N Attia, John Whitfield, John B Chalmers, John Viikari, Jorma Coresh, Josef Denny, Joshua C Karjalainen, Juha Fernandes, Jyotika K Endlich, Karlhans Butterbach, Katja Keene, Keith L Lohman, Kurt Portas, Laura Launer, Lenore J Lyytikäinen, Leo-Pekka Yengo, Loic Franke, Lude Ferrucci, Luigi Rose, Lynda M Kedenko, Lyudmyla Rao, Madhumathi Struchalin, Maksim Kleber, Marcus E Cavalieri, Margherita Haun, Margot Cornelis, Marilyn C Ciullo, Marina Pirastu, Mario de Andrade, Mariza McEvoy, Mark A Woodward, Mark Adam, Martin Cocca, Massimiliano Nauck, Matthias Imboden, Medea Waldenberger, Melanie Pruijm, Menno Metzger, Marie Stumvoll, Michael Evans, Michele K Sale, Michele M Kähönen, Mika Boban, Mladen Bochud, Murielle Rheinberger, Myriam Verweij, Niek Bouatia-Naji, Nabila Martin, Nicholas G Hastie, Nick Probst-Hensch, Nicole Soranzo, Nicole Devuyst, Olivier Raitakari, Olli Gottesman, Omri Franco, Oscar H Polasek, Ozren Gasparini, Paolo Munroe, Patricia B Ridker, Paul M Mitchell, Paul Muntner, Paul Meisinger, Christa Smit, Johannes H Kovacs, Peter Wild, Philipp S Froguel, Philippe Rettig, Rainer Mägi, Reedik Biffar, Reiner Schmidt, Reinhold Middelberg, Rita P S Carroll, Robert J Penninx, Brenda W Scott, Rodney J Katz, Ronit Sedaghat, Sanaz Wild, Sarah H Kardia, Sharon L R Ulivi, Sheila Hwang, Shih-Jen Enroth, Stefan Kloiber, Stefan Trompet, Stella Stengel, Benedicte Hancock, Stephen J Turner, Stephen T Rosas, Sylvia E Stracke, Sylvia Harris, Tamara B Zeller, Tanja Zemunik, Tatijana Lehtimäki, Terho Illig, Thomas Aspelund, Thor Nikopensius, Tiit Esko, Tonu Tanaka, Toshiko Gyllensten, Ulf Völker, Uwe Emilsson, Valur Vitart, Veronique Aalto, Ville Gudnason, Vilmundur Chouraki, Vincent Chen, Wei-Min Igl, Wilmar März, Winfried Koenig, Wolfgang Lieb, Wolfgang Loos, Ruth J F Liu, Yongmei Snieder, Harold Pramstaller, Peter P Parsa, Afshin O'Connell, Jeffrey R Susztak, Katalin Hamet, Pavel Tremblay, Johanne de Boer, Ian H Böger, Carsten A Goessling, Wolfram Chasman, Daniel I Köttgen, Anna Kao, W H Linda Fox, Caroline S
Publication Year :
2016
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.<br />Lars Lind ingår i ECHOGen Consortium
Details
Database :
OAIster
Notes :
application/pdf, English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1233775824
Document Type :
Electronic Resource
Full Text :
https://doi.org/10.1038.ncomms10023