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

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...

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Main 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, Leach, I. Mateo, 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.
Format:	Online
Language:	English
Published:	Nature Publishing Group 2016
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4735748/

id	pubmed-4735748
recordtype	oai_dc
spelling	pubmed-47357482016-03-04 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function 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 Leach, I. Mateo 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. Article 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. Nature Publishing Group 2016-01-21 /pmc/articles/PMC4735748/ /pubmed/26831199 http://dx.doi.org/10.1038/ncomms10023 Text en Copyright © 2016, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	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 Leach, I. Mateo 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.
spellingShingle	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 Leach, I. Mateo 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. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
author_facet	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 Leach, I. Mateo 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.
author_sort	Pattaro, Cristian
title	Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
title_short	Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
title_full	Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
title_fullStr	Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
title_full_unstemmed	Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
title_sort	genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
description	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.
publisher	Nature Publishing Group
publishDate	2016
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4735748/
_version_	1613531558996606976

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

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