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Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function

Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular...

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Autores principales: Pattaro, Cristian, Köttgen, Anna, Teumer, Alexander, Garnaas, Maija, Böger, Carsten A., Fuchsberger, Christian, Olden, Matthias, Chen, Ming-Huei, Tin, Adrienne, Taliun, Daniel, Li, Man, Gao, Xiaoyi, Gorski, Mathias, Yang, Qiong, Hundertmark, Claudia, Foster, Meredith C., O'Seaghdha, Conall M., Glazer, Nicole, Isaacs, Aaron, Liu, Ching-Ti, Smith, Albert V., O'Connell, Jeffrey R., Struchalin, Maksim, Tanaka, Toshiko, Li, Guo, Johnson, Andrew D., Gierman, Hinco J., Feitosa, Mary, Hwang, Shih-Jen, Atkinson, Elizabeth J., Lohman, Kurt, Cornelis, Marilyn C., Johansson, Åsa, Tönjes, Anke, Dehghan, Abbas, Chouraki, Vincent, Holliday, Elizabeth G., Sorice, Rossella, Kutalik, Zoltan, Lehtimäki, Terho, Esko, Tõnu, Deshmukh, Harshal, Ulivi, Sheila, Chu, Audrey Y., Murgia, Federico, Trompet, Stella, Imboden, Medea, Kollerits, Barbara, Pistis, Giorgio, Harris, Tamara B., Launer, Lenore J., Aspelund, Thor, Eiriksdottir, Gudny, Mitchell, Braxton D., Boerwinkle, Eric, Schmidt, Helena, Cavalieri, Margherita, Rao, Madhumathi, Hu, Frank B., Demirkan, Ayse, Oostra, Ben A., de Andrade, Mariza, Turner, Stephen T., Ding, Jingzhong, Andrews, Jeanette S., Freedman, Barry I., Koenig, Wolfgang, Illig, Thomas, Döring, Angela, Wichmann, H.-Erich, Kolcic, Ivana, Zemunik, Tatijana, Boban, Mladen, Minelli, Cosetta, Wheeler, Heather E., Igl, Wilmar, Zaboli, Ghazal, Wild, Sarah H., Wright, Alan F., Campbell, Harry, Ellinghaus, David, Nöthlings, Ute, Jacobs, Gunnar, Biffar, Reiner, Endlich, Karlhans, Ernst, Florian, Homuth, Georg, Kroemer, Heyo K., Nauck, Matthias, Stracke, Sylvia, Völker, Uwe, Völzke, Henry, Kovacs, Peter, Stumvoll, Michael, Mägi, Reedik, Hofman, Albert, Uitterlinden, Andre G., Rivadeneira, Fernando, Aulchenko, Yurii S., Polasek, Ozren, Hastie, Nick, Vitart, Veronique, Helmer, Catherine, Wang, Jie Jin, Ruggiero, Daniela, Bergmann, Sven, Kähönen, Mika, Viikari, Jorma, Nikopensius, Tiit, Province, Michael, Ketkar, Shamika, Colhoun, Helen, Doney, Alex, Robino, Antonietta, Giulianini, Franco, Krämer, Bernhard K., Portas, Laura, Ford, Ian, Buckley, Brendan M., Adam, Martin, Thun, Gian-Andri, Paulweber, Bernhard, Haun, Margot, Sala, Cinzia, Metzger, Marie, Mitchell, Paul, Ciullo, Marina, Kim, Stuart K., Vollenweider, Peter, Raitakari, Olli, Metspalu, Andres, Palmer, Colin, Gasparini, Paolo, Pirastu, Mario, Jukema, J. Wouter, Probst-Hensch, Nicole M., Kronenberg, Florian, Toniolo, Daniela, Gudnason, Vilmundur, Shuldiner, Alan R., Coresh, Josef, Schmidt, Reinhold, Ferrucci, Luigi, Siscovick, David S., van Duijn, Cornelia M., Borecki, Ingrid, Kardia, Sharon L. R., Liu, Yongmei, Curhan, Gary C., Rudan, Igor, Gyllensten, Ulf, Wilson, James F., Franke, Andre, Pramstaller, Peter P., Rettig, Rainer, Prokopenko, Inga, Witteman, Jacqueline C. M., Hayward, Caroline, Ridker, Paul, Parsa, Afshin, Bochud, Murielle, Heid, Iris M., Goessling, Wolfram, Chasman, Daniel I., Kao, W. H. Linda, Fox, Caroline S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315455/
https://www.ncbi.nlm.nih.gov/pubmed/22479191
http://dx.doi.org/10.1371/journal.pgen.1002584
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author Pattaro, Cristian
Köttgen, Anna
Teumer, Alexander
Garnaas, Maija
Böger, Carsten A.
Fuchsberger, Christian
Olden, Matthias
Chen, Ming-Huei
Tin, Adrienne
Taliun, Daniel
Li, Man
Gao, Xiaoyi
Gorski, Mathias
Yang, Qiong
Hundertmark, Claudia
Foster, Meredith C.
O'Seaghdha, Conall M.
Glazer, Nicole
Isaacs, Aaron
Liu, Ching-Ti
Smith, Albert V.
O'Connell, Jeffrey R.
Struchalin, Maksim
Tanaka, Toshiko
Li, Guo
Johnson, Andrew D.
Gierman, Hinco J.
Feitosa, Mary
Hwang, Shih-Jen
Atkinson, Elizabeth J.
Lohman, Kurt
Cornelis, Marilyn C.
Johansson, Åsa
Tönjes, Anke
Dehghan, Abbas
Chouraki, Vincent
Holliday, Elizabeth G.
Sorice, Rossella
Kutalik, Zoltan
Lehtimäki, Terho
Esko, Tõnu
Deshmukh, Harshal
Ulivi, Sheila
Chu, Audrey Y.
Murgia, Federico
Trompet, Stella
Imboden, Medea
Kollerits, Barbara
Pistis, Giorgio
Harris, Tamara B.
Launer, Lenore J.
Aspelund, Thor
Eiriksdottir, Gudny
Mitchell, Braxton D.
Boerwinkle, Eric
Schmidt, Helena
Cavalieri, Margherita
Rao, Madhumathi
Hu, Frank B.
Demirkan, Ayse
Oostra, Ben A.
de Andrade, Mariza
Turner, Stephen T.
Ding, Jingzhong
Andrews, Jeanette S.
Freedman, Barry I.
Koenig, Wolfgang
Illig, Thomas
Döring, Angela
Wichmann, H.-Erich
Kolcic, Ivana
Zemunik, Tatijana
Boban, Mladen
Minelli, Cosetta
Wheeler, Heather E.
Igl, Wilmar
Zaboli, Ghazal
Wild, Sarah H.
Wright, Alan F.
Campbell, Harry
Ellinghaus, David
Nöthlings, Ute
Jacobs, Gunnar
Biffar, Reiner
Endlich, Karlhans
Ernst, Florian
Homuth, Georg
Kroemer, Heyo K.
Nauck, Matthias
Stracke, Sylvia
Völker, Uwe
Völzke, Henry
Kovacs, Peter
Stumvoll, Michael
Mägi, Reedik
Hofman, Albert
Uitterlinden, Andre G.
Rivadeneira, Fernando
Aulchenko, Yurii S.
Polasek, Ozren
Hastie, Nick
Vitart, Veronique
Helmer, Catherine
Wang, Jie Jin
Ruggiero, Daniela
Bergmann, Sven
Kähönen, Mika
Viikari, Jorma
Nikopensius, Tiit
Province, Michael
Ketkar, Shamika
Colhoun, Helen
Doney, Alex
Robino, Antonietta
Giulianini, Franco
Krämer, Bernhard K.
Portas, Laura
Ford, Ian
Buckley, Brendan M.
Adam, Martin
Thun, Gian-Andri
Paulweber, Bernhard
Haun, Margot
Sala, Cinzia
Metzger, Marie
Mitchell, Paul
Ciullo, Marina
Kim, Stuart K.
Vollenweider, Peter
Raitakari, Olli
Metspalu, Andres
Palmer, Colin
Gasparini, Paolo
Pirastu, Mario
Jukema, J. Wouter
Probst-Hensch, Nicole M.
Kronenberg, Florian
Toniolo, Daniela
Gudnason, Vilmundur
Shuldiner, Alan R.
Coresh, Josef
Schmidt, Reinhold
Ferrucci, Luigi
Siscovick, David S.
van Duijn, Cornelia M.
Borecki, Ingrid
Kardia, Sharon L. R.
Liu, Yongmei
Curhan, Gary C.
Rudan, Igor
Gyllensten, Ulf
Wilson, James F.
Franke, Andre
Pramstaller, Peter P.
Rettig, Rainer
Prokopenko, Inga
Witteman, Jacqueline C. M.
Hayward, Caroline
Ridker, Paul
Parsa, Afshin
Bochud, Murielle
Heid, Iris M.
Goessling, Wolfram
Chasman, Daniel I.
Kao, W. H. Linda
Fox, Caroline S.
author_facet Pattaro, Cristian
Köttgen, Anna
Teumer, Alexander
Garnaas, Maija
Böger, Carsten A.
Fuchsberger, Christian
Olden, Matthias
Chen, Ming-Huei
Tin, Adrienne
Taliun, Daniel
Li, Man
Gao, Xiaoyi
Gorski, Mathias
Yang, Qiong
Hundertmark, Claudia
Foster, Meredith C.
O'Seaghdha, Conall M.
Glazer, Nicole
Isaacs, Aaron
Liu, Ching-Ti
Smith, Albert V.
O'Connell, Jeffrey R.
Struchalin, Maksim
Tanaka, Toshiko
Li, Guo
Johnson, Andrew D.
Gierman, Hinco J.
Feitosa, Mary
Hwang, Shih-Jen
Atkinson, Elizabeth J.
Lohman, Kurt
Cornelis, Marilyn C.
Johansson, Åsa
Tönjes, Anke
Dehghan, Abbas
Chouraki, Vincent
Holliday, Elizabeth G.
Sorice, Rossella
Kutalik, Zoltan
Lehtimäki, Terho
Esko, Tõnu
Deshmukh, Harshal
Ulivi, Sheila
Chu, Audrey Y.
Murgia, Federico
Trompet, Stella
Imboden, Medea
Kollerits, Barbara
Pistis, Giorgio
Harris, Tamara B.
Launer, Lenore J.
Aspelund, Thor
Eiriksdottir, Gudny
Mitchell, Braxton D.
Boerwinkle, Eric
Schmidt, Helena
Cavalieri, Margherita
Rao, Madhumathi
Hu, Frank B.
Demirkan, Ayse
Oostra, Ben A.
de Andrade, Mariza
Turner, Stephen T.
Ding, Jingzhong
Andrews, Jeanette S.
Freedman, Barry I.
Koenig, Wolfgang
Illig, Thomas
Döring, Angela
Wichmann, H.-Erich
Kolcic, Ivana
Zemunik, Tatijana
Boban, Mladen
Minelli, Cosetta
Wheeler, Heather E.
Igl, Wilmar
Zaboli, Ghazal
Wild, Sarah H.
Wright, Alan F.
Campbell, Harry
Ellinghaus, David
Nöthlings, Ute
Jacobs, Gunnar
Biffar, Reiner
Endlich, Karlhans
Ernst, Florian
Homuth, Georg
Kroemer, Heyo K.
Nauck, Matthias
Stracke, Sylvia
Völker, Uwe
Völzke, Henry
Kovacs, Peter
Stumvoll, Michael
Mägi, Reedik
Hofman, Albert
Uitterlinden, Andre G.
Rivadeneira, Fernando
Aulchenko, Yurii S.
Polasek, Ozren
Hastie, Nick
Vitart, Veronique
Helmer, Catherine
Wang, Jie Jin
Ruggiero, Daniela
Bergmann, Sven
Kähönen, Mika
Viikari, Jorma
Nikopensius, Tiit
Province, Michael
Ketkar, Shamika
Colhoun, Helen
Doney, Alex
Robino, Antonietta
Giulianini, Franco
Krämer, Bernhard K.
Portas, Laura
Ford, Ian
Buckley, Brendan M.
Adam, Martin
Thun, Gian-Andri
Paulweber, Bernhard
Haun, Margot
Sala, Cinzia
Metzger, Marie
Mitchell, Paul
Ciullo, Marina
Kim, Stuart K.
Vollenweider, Peter
Raitakari, Olli
Metspalu, Andres
Palmer, Colin
Gasparini, Paolo
Pirastu, Mario
Jukema, J. Wouter
Probst-Hensch, Nicole M.
Kronenberg, Florian
Toniolo, Daniela
Gudnason, Vilmundur
Shuldiner, Alan R.
Coresh, Josef
Schmidt, Reinhold
Ferrucci, Luigi
Siscovick, David S.
van Duijn, Cornelia M.
Borecki, Ingrid
Kardia, Sharon L. R.
Liu, Yongmei
Curhan, Gary C.
Rudan, Igor
Gyllensten, Ulf
Wilson, James F.
Franke, Andre
Pramstaller, Peter P.
Rettig, Rainer
Prokopenko, Inga
Witteman, Jacqueline C. M.
Hayward, Caroline
Ridker, Paul
Parsa, Afshin
Bochud, Murielle
Heid, Iris M.
Goessling, Wolfram
Chasman, Daniel I.
Kao, W. H. Linda
Fox, Caroline S.
author_sort Pattaro, Cristian
collection PubMed
description Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD.
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spelling pubmed-33154552012-04-04 Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function Pattaro, Cristian Köttgen, Anna Teumer, Alexander Garnaas, Maija Böger, Carsten A. Fuchsberger, Christian Olden, Matthias Chen, Ming-Huei Tin, Adrienne Taliun, Daniel Li, Man Gao, Xiaoyi Gorski, Mathias Yang, Qiong Hundertmark, Claudia Foster, Meredith C. O'Seaghdha, Conall M. Glazer, Nicole Isaacs, Aaron Liu, Ching-Ti Smith, Albert V. O'Connell, Jeffrey R. Struchalin, Maksim Tanaka, Toshiko Li, Guo Johnson, Andrew D. Gierman, Hinco J. Feitosa, Mary Hwang, Shih-Jen Atkinson, Elizabeth J. Lohman, Kurt Cornelis, Marilyn C. Johansson, Åsa Tönjes, Anke Dehghan, Abbas Chouraki, Vincent Holliday, Elizabeth G. Sorice, Rossella Kutalik, Zoltan Lehtimäki, Terho Esko, Tõnu Deshmukh, Harshal Ulivi, Sheila Chu, Audrey Y. Murgia, Federico Trompet, Stella Imboden, Medea Kollerits, Barbara Pistis, Giorgio Harris, Tamara B. Launer, Lenore J. Aspelund, Thor Eiriksdottir, Gudny Mitchell, Braxton D. Boerwinkle, Eric Schmidt, Helena Cavalieri, Margherita Rao, Madhumathi Hu, Frank B. Demirkan, Ayse Oostra, Ben A. de Andrade, Mariza Turner, Stephen T. Ding, Jingzhong Andrews, Jeanette S. Freedman, Barry I. Koenig, Wolfgang Illig, Thomas Döring, Angela Wichmann, H.-Erich Kolcic, Ivana Zemunik, Tatijana Boban, Mladen Minelli, Cosetta Wheeler, Heather E. Igl, Wilmar Zaboli, Ghazal Wild, Sarah H. Wright, Alan F. Campbell, Harry Ellinghaus, David Nöthlings, Ute Jacobs, Gunnar Biffar, Reiner Endlich, Karlhans Ernst, Florian Homuth, Georg Kroemer, Heyo K. Nauck, Matthias Stracke, Sylvia Völker, Uwe Völzke, Henry Kovacs, Peter Stumvoll, Michael Mägi, Reedik Hofman, Albert Uitterlinden, Andre G. Rivadeneira, Fernando Aulchenko, Yurii S. Polasek, Ozren Hastie, Nick Vitart, Veronique Helmer, Catherine Wang, Jie Jin Ruggiero, Daniela Bergmann, Sven Kähönen, Mika Viikari, Jorma Nikopensius, Tiit Province, Michael Ketkar, Shamika Colhoun, Helen Doney, Alex Robino, Antonietta Giulianini, Franco Krämer, Bernhard K. Portas, Laura Ford, Ian Buckley, Brendan M. Adam, Martin Thun, Gian-Andri Paulweber, Bernhard Haun, Margot Sala, Cinzia Metzger, Marie Mitchell, Paul Ciullo, Marina Kim, Stuart K. Vollenweider, Peter Raitakari, Olli Metspalu, Andres Palmer, Colin Gasparini, Paolo Pirastu, Mario Jukema, J. Wouter Probst-Hensch, Nicole M. Kronenberg, Florian Toniolo, Daniela Gudnason, Vilmundur Shuldiner, Alan R. Coresh, Josef Schmidt, Reinhold Ferrucci, Luigi Siscovick, David S. van Duijn, Cornelia M. Borecki, Ingrid Kardia, Sharon L. R. Liu, Yongmei Curhan, Gary C. Rudan, Igor Gyllensten, Ulf Wilson, James F. Franke, Andre Pramstaller, Peter P. Rettig, Rainer Prokopenko, Inga Witteman, Jacqueline C. M. Hayward, Caroline Ridker, Paul Parsa, Afshin Bochud, Murielle Heid, Iris M. Goessling, Wolfram Chasman, Daniel I. Kao, W. H. Linda Fox, Caroline S. PLoS Genet Research Article Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD. Public Library of Science 2012-03-29 /pmc/articles/PMC3315455/ /pubmed/22479191 http://dx.doi.org/10.1371/journal.pgen.1002584 Text en Pattaro et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Pattaro, Cristian
Köttgen, Anna
Teumer, Alexander
Garnaas, Maija
Böger, Carsten A.
Fuchsberger, Christian
Olden, Matthias
Chen, Ming-Huei
Tin, Adrienne
Taliun, Daniel
Li, Man
Gao, Xiaoyi
Gorski, Mathias
Yang, Qiong
Hundertmark, Claudia
Foster, Meredith C.
O'Seaghdha, Conall M.
Glazer, Nicole
Isaacs, Aaron
Liu, Ching-Ti
Smith, Albert V.
O'Connell, Jeffrey R.
Struchalin, Maksim
Tanaka, Toshiko
Li, Guo
Johnson, Andrew D.
Gierman, Hinco J.
Feitosa, Mary
Hwang, Shih-Jen
Atkinson, Elizabeth J.
Lohman, Kurt
Cornelis, Marilyn C.
Johansson, Åsa
Tönjes, Anke
Dehghan, Abbas
Chouraki, Vincent
Holliday, Elizabeth G.
Sorice, Rossella
Kutalik, Zoltan
Lehtimäki, Terho
Esko, Tõnu
Deshmukh, Harshal
Ulivi, Sheila
Chu, Audrey Y.
Murgia, Federico
Trompet, Stella
Imboden, Medea
Kollerits, Barbara
Pistis, Giorgio
Harris, Tamara B.
Launer, Lenore J.
Aspelund, Thor
Eiriksdottir, Gudny
Mitchell, Braxton D.
Boerwinkle, Eric
Schmidt, Helena
Cavalieri, Margherita
Rao, Madhumathi
Hu, Frank B.
Demirkan, Ayse
Oostra, Ben A.
de Andrade, Mariza
Turner, Stephen T.
Ding, Jingzhong
Andrews, Jeanette S.
Freedman, Barry I.
Koenig, Wolfgang
Illig, Thomas
Döring, Angela
Wichmann, H.-Erich
Kolcic, Ivana
Zemunik, Tatijana
Boban, Mladen
Minelli, Cosetta
Wheeler, Heather E.
Igl, Wilmar
Zaboli, Ghazal
Wild, Sarah H.
Wright, Alan F.
Campbell, Harry
Ellinghaus, David
Nöthlings, Ute
Jacobs, Gunnar
Biffar, Reiner
Endlich, Karlhans
Ernst, Florian
Homuth, Georg
Kroemer, Heyo K.
Nauck, Matthias
Stracke, Sylvia
Völker, Uwe
Völzke, Henry
Kovacs, Peter
Stumvoll, Michael
Mägi, Reedik
Hofman, Albert
Uitterlinden, Andre G.
Rivadeneira, Fernando
Aulchenko, Yurii S.
Polasek, Ozren
Hastie, Nick
Vitart, Veronique
Helmer, Catherine
Wang, Jie Jin
Ruggiero, Daniela
Bergmann, Sven
Kähönen, Mika
Viikari, Jorma
Nikopensius, Tiit
Province, Michael
Ketkar, Shamika
Colhoun, Helen
Doney, Alex
Robino, Antonietta
Giulianini, Franco
Krämer, Bernhard K.
Portas, Laura
Ford, Ian
Buckley, Brendan M.
Adam, Martin
Thun, Gian-Andri
Paulweber, Bernhard
Haun, Margot
Sala, Cinzia
Metzger, Marie
Mitchell, Paul
Ciullo, Marina
Kim, Stuart K.
Vollenweider, Peter
Raitakari, Olli
Metspalu, Andres
Palmer, Colin
Gasparini, Paolo
Pirastu, Mario
Jukema, J. Wouter
Probst-Hensch, Nicole M.
Kronenberg, Florian
Toniolo, Daniela
Gudnason, Vilmundur
Shuldiner, Alan R.
Coresh, Josef
Schmidt, Reinhold
Ferrucci, Luigi
Siscovick, David S.
van Duijn, Cornelia M.
Borecki, Ingrid
Kardia, Sharon L. R.
Liu, Yongmei
Curhan, Gary C.
Rudan, Igor
Gyllensten, Ulf
Wilson, James F.
Franke, Andre
Pramstaller, Peter P.
Rettig, Rainer
Prokopenko, Inga
Witteman, Jacqueline C. M.
Hayward, Caroline
Ridker, Paul
Parsa, Afshin
Bochud, Murielle
Heid, Iris M.
Goessling, Wolfram
Chasman, Daniel I.
Kao, W. H. Linda
Fox, Caroline S.
Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function
title Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function
title_full Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function
title_fullStr Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function
title_full_unstemmed Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function
title_short Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function
title_sort genome-wide association and functional follow-up reveals new loci for kidney function
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315455/
https://www.ncbi.nlm.nih.gov/pubmed/22479191
http://dx.doi.org/10.1371/journal.pgen.1002584
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