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.; Most, Peter J. van der; Wright, Alan F.; Shuldiner, Alan R.; Morrison, Alanna C.; Hofman, Albert; Smith, Albert V.; Dreisbach, Albert W.; Franke, Andre; Uitterlinden, Andre G.; Metspalu, Andres; Tönjes, Anke; Lupo, Antonio; Robino, Antonietta; Johansson, Asa; 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; Duijn, Cornelia M. van; 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 R.; 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.; Koettgen, Anna; Kao, W. H. Linda; Fox, Caroline S. (2016): Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. In: Nature Communications, Vol. 7, 10023 |
| 1MB |
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.
Item Type: | Journal article |
---|---|
Faculties: | Medicine > Institute for Medical Information Processing, Biometry and Epidemiology |
Subjects: | 600 Technology > 610 Medicine and health |
URN: | urn:nbn:de:bvb:19-epub-38259-8 |
ISSN: | 2041-1723 |
Language: | English |
ID Code: | 38259 |
Deposited On: | 04. May 2017 13:12 |
Last Modified: | 04. Nov 2020 14:45 |
- BASE
- 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.
- Most, Peter J. van der
- Wright, Alan F.
- Shuldiner, Alan R.
- Morrison, Alanna C.
- Hofman, Albert
- Smith, Albert V.
- Dreisbach, Albert W.
- Franke, Andre
- Uitterlinden, Andre G.
- Metspalu, Andres
- Tönjes, Anke
- Lupo, Antonio
- Robino, Antonietta
- Johansson, Asa
- 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
- Duijn, Cornelia M. van
- 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 R.
- 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.
- Koettgen, Anna
- Kao, W. H. Linda
- Fox, Caroline S.
- Google Scholar
- 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.
- Most, Peter J. van der
- Wright, Alan F.
- Shuldiner, Alan R.
- Morrison, Alanna C.
- Hofman, Albert
- Smith, Albert V.
- Dreisbach, Albert W.
- Franke, Andre
- Uitterlinden, Andre G.
- Metspalu, Andres
- Tönjes, Anke
- Lupo, Antonio
- Robino, Antonietta
- Johansson, Asa
- 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
- Duijn, Cornelia M. van
- 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 R.
- 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.
- Koettgen, Anna
- Kao, W. H. Linda
- Fox, Caroline S.