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, Asa, Demirkan, Ayse, Kollerits, Barbara, Freedman, Barry I., Ponte, Belen, Oostra, Ben A., Paulweber, Bernhard, Kraemer, Bernhard K., Mitchell, Braxton D., Buckley, Brendan M., Peralta, Carmen A., Hayward, Caroline, Helmer, Catherine, Rotimi, Charles N., Shaffer, Christian M., Mueller, 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, Voelzke, 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., Lyytikaeinen, 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., Kaehoenen, 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, Maegi, 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, Lehtimaeki, Terho, Illig, Thomas, Aspelund, Thor, Nikopensius, Tiit, Esko, Tonu, Tanaka, Toshiko, Gyllensten, Ulf, Voelker, Uwe, Emilsson, Valur, Vitart, Veronique, Aalto, Ville, Gudnason, Vilmundur, Chouraki, Vincent, Chen, Wei-Min, Igl, Wilmar, Maerz, 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., Boeger, Carsten A., Goessling, Wolfram, Chasman, Daniel I., Koettgen, Anna, 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 . doi:10.1038/ncomms10023

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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, Asa
Demirkan, Ayse
Kollerits, Barbara
Freedman, Barry I.
Ponte, Belen
Oostra, Ben A.
Paulweber, Bernhard
Kraemer, Bernhard K.
Mitchell, Braxton D.
Buckley, Brendan M.
Peralta, Carmen A.
Hayward, Caroline
Helmer, Catherine
Rotimi, Charles N.
Shaffer, Christian M.
Mueller, 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
Voelzke, 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.
Lyytikaeinen, 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.
Kaehoenen, 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
Maegi, 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
Lehtimaeki, Terho
Illig, Thomas
Aspelund, Thor
Nikopensius, Tiit
Esko, Tonu
Tanaka, Toshiko
Gyllensten, Ulf
Voelker, Uwe
Emilsson, Valur
Vitart, Veronique
Aalto, Ville
Gudnason, Vilmundur
Chouraki, Vincent
Chen, Wei-Min
Igl, Wilmar
Maerz, 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.
Boeger, Carsten A.
Goessling, Wolfram
Chasman, Daniel I.
Koettgen, Anna
Kao, W. H. Linda
Fox, Caroline S.
Title Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
Journal name Nature Communications   Check publisher's open access policy
ISSN 2041-1723
Publication date 2016-01-21
Year available 2016
Sub-type Article (original research)
DOI 10.1038/ncomms10023
Open Access Status DOI
Volume 7
Total pages 19
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2017
Language eng
Formatted 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.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: HERDC Pre-Audit
Institute for Molecular Bioscience - Publications
 
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Citation counts: TR Web of Science Citation Count  Cited 22 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 18 times in Scopus Article | Citations
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