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

Cristian Pattaro (), Alexander Teumer, Mathias Gorski, Audrey Y. Chu, Man Li, Vladan Mijatovic, Maija Garnaas, Adrienne Tin, Rossella Sorice, Yong Li, Daniel Taliun, Matthias Olden, Meredith Foster, Qiong Yang, Ming-Huei Chen, Tune H. Pers, Andrew D. Johnson, Yi-An Ko, Christian Fuchsberger, Bamidele Tayo, Michael Nalls, Mary F. Feitosa, Aaron Isaacs, Abbas Dehghan, Pio d’Adamo, Adebowale Adeyemo, Aida Karina Dieffenbach, Alan B. Zonderman, Ilja M. Nolte, Peter J. van der Most, Alan F. Wright, Alan R. Shuldiner, Alanna C. Morrison, Albert Hofman, Albert V. Smith, Albert W. Dreisbach, Andre Franke, Andre G. Uitterlinden, Andres Metspalu, Anke Tonjes, Antonio Lupo, Antonietta Robino, Åsa Johansson, Ayse Demirkan, Barbara Kollerits, Barry I. Freedman, Belen Ponte, Ben A. Oostra, Bernhard Paulweber, Bernhard K. Krämer, Braxton D. Mitchell, Brendan M. Buckley, Carmen A. Peralta, Caroline Hayward, Catherine Helmer, Charles N. Rotimi, Christian M. Shaffer, Christian Müller, Cinzia Sala, Cornelia M. van Duijn, Aude Saint-Pierre, Daniel Ackermann, Daniel Shriner, Daniela Ruggiero, Daniela Toniolo, Yingchang Lu, Daniele Cusi, Darina Czamara, David Ellinghaus, David S. Siscovick, Douglas Ruderfer, Christian Gieger, Harald Grallert, Elena Rochtchina, Elizabeth J. Atkinson, Elizabeth G. Holliday, Eric Boerwinkle, Erika Salvi, Erwin P. Bottinger, Federico Murgia, Fernando Rivadeneira, Florian Ernst, Florian Kronenberg, Frank B. Hu, Gerjan J. Navis, Gary C. Curhan, George B. Ehret, Georg Homuth, Stefan Coassin, Gian-Andri Thun, Giorgio Pistis, Giovanni Gambaro, Giovanni Malerba, Grant W. Montgomery, Gudny Eiriksdottir, Gunnar Jacobs, Guo Li, H-Erich Wichmann, Harry Campbell, Helena Schmidt, Henri Wallaschofski, Henry Völzke, Hermann Brenner, Heyo K. Kroemer, Holly Kramer, Honghuang Lin, I. Mateo Leach, Ian Ford, Idris Guessous, Igor Rudan, Inga Prokopenko, Ingrid Borecki, Iris M. Heid, Ivana Kolcic, Ivana Persico, J. Wouter Jukema, James F. Wilson, Janine F. Felix, Jasmin Divers, Jean-Charles Lambert, Jeanette M. Stafford, Jean-Michel Gaspoz, Jennifer A. Smith, Jessica D. Faul, Jie Jin Wang, Jingzhong Ding, Joel N. Hirschhorn, John Attia, John B. Whitfield, John Chalmers, Jorma Viikari, Josef Coresh, Joshua C. Denny, Juha Karjalainen, Jyotika K. Fernandes, Karlhans Endlich, Katja Butterbach, Keith L. Keene, Kurt Lohman, Laura Portas, Lenore J. Launer, Leo-Pekka Lyytikäinen, Loic Yengo, Lude Franke, Luigi Ferrucci, Lynda M. Rose, Lyudmyla Kedenko, Madhumathi Rao, Maksim Struchalin, Marcus E. Kleber, Margherita Cavalieri, Margot Haun, Marilyn C. Cornelis, Marina Ciullo, Mario Pirastu, Mariza de Andrade, Mark A. McEvoy, Mark Woodward, Martin Adam, Massimiliano Cocca, Matthias Nauck, Medea Imboden, Melanie Waldenberger, Menno Pruijm, Marie Metzger, Michael Stumvoll, Michele K. Evans, Michele M. Sale, Mika Kähönen, Mladen Boban, Murielle Bochud, Myriam Rheinberger, Niek Verweij, Nabila Bouatia-Naji, Nicholas G. Martin, Nick Hastie, Nicole Probst-Hensch, Nicole Soranzo, Olivier Devuyst, Olli Raitakari, Omri Gottesman, Oscar H. Franco, Ozren Polasek, Paolo Gasparini, Patricia B. Munroe, Paul M. Ridker, Paul Mitchell, Paul Muntner, Christa Meisinger, Johannes H. Smit, Peter Kovacs, Philipp S. Wild, Philippe Froguel, Rainer Rettig, Reedik Mägi, Reiner Biffar, Reinhold Schmidt, Rita P. S. Middelberg, Robert J. Carroll, Brenda W. Penninx, Rodney J. Scott, Ronit Katz, Sanaz Sedaghat, Sarah H. Wild, Sharon L. R. Kardia, Sheila Ulivi, Shih-Jen Hwang, Stefan Enroth, Stefan Kloiber, Stella Trompet, Benedicte Stengel, Stephen J. Hancock, Stephen T. Turner, Sylvia E. Rosas, Sylvia Stracke, Tamara B. Harris, Tanja Zeller, Tatijana Zemunik, Terho Lehtimäki, Thomas Illig, Thor Aspelund, Tiit Nikopensius, Tonu Esko, Toshiko Tanaka, Ulf Gyllensten, Uwe Völker, Valur Emilsson, Veronique Vitart, Ville Aalto, Vilmundur Gudnason, Vincent Chouraki, Wei-Min Chen, Wilmar Igl, Winfried März, Wolfgang Koenig, Wolfgang Lieb, Ruth J. F. Loos, Yongmei Liu, Harold Snieder, Peter P. Pramstaller, Afshin Parsa, Jeffrey R. O’Connell, Katalin Susztak, Pavel Hamet, Johanne Tremblay, Ian H. de Boer, Carsten A. Böger, Wolfram Goessling, Daniel I. Chasman, Anna Köttgen (), W. H. Linda Kao and Caroline S. Fox ()
Additional contact information
Cristian Pattaro: Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC), affiliated to the University of Lübeck
Alexander Teumer: Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt-University Greifswald
Mathias Gorski: Institute of Epidemiology and Preventive Medicine, University of Regensburg
Audrey Y. Chu: Preventive Medicine, Brigham and Women’s Hospital
Man Li: Johns Hopkins Bloomberg School of Public Health
Vladan Mijatovic: University of Verona
Maija Garnaas: Brigham and Women’s Hospital, Harvard Medical School
Adrienne Tin: Johns Hopkins Bloomberg School of Public Health
Rossella Sorice: Institute of Genetics and Biophysics "Adriano Buzzati-Traverso"—CNR
Yong Li: University Hospital Freiburg
Daniel Taliun: Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC), affiliated to the University of Lübeck
Matthias Olden: Institute of Epidemiology and Preventive Medicine, University of Regensburg
Meredith Foster: Tufts University School of Medicine, Tufts Medical Center
Qiong Yang: Boston University School of Public Health
Ming-Huei Chen: Boston University School of Public Health
Tune H. Pers: Boston Children’s Hospital
Andrew D. Johnson: NHLBI's Framingham Heart Study and the Center for Population Studies
Yi-An Ko: Perelman School of Medicine, University of Pennsylvania
Christian Fuchsberger: Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC), affiliated to the University of Lübeck
Bamidele Tayo: Loyola Medical Center
Michael Nalls: Laboratory of Neurogenetics
Mary F. Feitosa: Washington University School of Medicine
Aaron Isaacs: Genetic Epidemiology Unit, Erasmus University Medical Center
Abbas Dehghan: Erasmus University Medical Center
Pio d’Adamo: Institute for Maternal and Child Health—IRCCS "Burlo Garofolo" and University of Trieste
Adebowale Adeyemo: Center for Research on Genomics and Global Health, National Human Genome Research Institute
Aida Karina Dieffenbach: German Cancer Research Center (DKFZ)
Alan B. Zonderman: Laboratory of Personality and Cognition, National Institute on Aging, National Institutes of Health, NIH Biomedical Center
Ilja M. Nolte: Unit of Genetic Epidemiology and Bioinformatics, University Medical Center Groningen
Peter J. van der Most: Unit of Genetic Epidemiology and Bioinformatics, University Medical Center Groningen
Alan F. Wright: MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh
Alan R. Shuldiner: University of Maryland School of Medicine
Alanna C. Morrison: Human Genetics Center, University of Texas Health Science Center at Houston
Albert Hofman: Erasmus University Medical Center
Albert V. Smith: Icelandic Heart Association, Research Institute
Albert W. Dreisbach: University of Mississippi
Andre Franke: Institute of Clinical Molecular Biology, Christian-Albrechts University of Kiel
Andre G. Uitterlinden: Erasmus University Medical Center
Andres Metspalu: Estonian Genome Center of University of Tartu (EGCUT)
Anke Tonjes: University of Leipzig
Antonio Lupo: University of Verona
Antonietta Robino: Institute for Maternal and Child Health—IRCCS "Burlo Garofolo" and University of Trieste
Åsa Johansson: Uppsala University, Genetics and Pathology, Biomedical Center, SciLifeLab, Uppsala University
Ayse Demirkan: Genetic Epidemiology Unit, Erasmus University Medical Center
Barbara Kollerits: Innsbruck Medical University
Barry I. Freedman: Wake Forest School of Medicine
Belen Ponte: Geneva University Hospital
Ben A. Oostra: Erasmus University Medical Center
Bernhard Paulweber: Paracelsus Medical University/Salzburger Landeskliniken
Bernhard K. Krämer: University Medical Centre Mannheim, University of Heidelberg
Braxton D. Mitchell: University of Maryland School of Medicine
Brendan M. Buckley: University College Cork, Clinical Investigations Building
Carmen A. Peralta: University of California, San Francisco Medical School and San Francisco VA Medical Center
Caroline Hayward: MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh
Catherine Helmer: INSERM, ISPED, Centre INSERM U897—Epidemiologie-Biostatistique
Charles N. Rotimi: Center for Research on Genomics and Global Health, National Human Genome Research Institute
Christian M. Shaffer: Vanderbilt University School of Medicine
Christian Müller: University Heart Center Hamburg, Clinic for general and interventional cardiology
Cinzia Sala: San Raffaele Scientific Institute
Cornelia M. van Duijn: Genetic Epidemiology Unit, Erasmus University Medical Center
Aude Saint-Pierre: Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC), affiliated to the University of Lübeck
Daniel Ackermann: Geneva University Hospital
Daniel Shriner: Center for Research on Genomics and Global Health, National Human Genome Research Institute
Daniela Ruggiero: Institute of Genetics and Biophysics "Adriano Buzzati-Traverso"—CNR
Daniela Toniolo: San Raffaele Scientific Institute
Yingchang Lu: The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
Daniele Cusi: University of Milano
Darina Czamara: Max Planck Institute of Psychiatry
David Ellinghaus: Institute of Clinical Molecular Biology, Christian-Albrechts University of Kiel
David S. Siscovick: Cardiovascular Health Research Unit, University of Washington
Douglas Ruderfer: Icahn School of Medicine at Mount Sinai
Christian Gieger: Institute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health
Harald Grallert: Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health
Elena Rochtchina: Westmead Millennium Institute, Centre for Vision Research, University of Sydney
Elizabeth J. Atkinson: Mayo Clinic
Elizabeth G. Holliday: Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, University of Newcastle, HMRI Building1, Kookaburra Circuit
Eric Boerwinkle: Human Genetics Center, University of Texas Health Science Center at Houston
Erika Salvi: University of Milano
Erwin P. Bottinger: The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
Federico Murgia: Institute of Population Genetics—CNR
Fernando Rivadeneira: Erasmus University Medical Center
Florian Ernst: Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt-University Greifswald
Florian Kronenberg: Innsbruck Medical University
Frank B. Hu: Harvard School of Public Health
Gerjan J. Navis: University Medical Center Groningen, University of Groningen
Gary C. Curhan: Brigham and Women’s Hospital and Channing Laboratory, Harvard Medical School
George B. Ehret: Cardiology, Geneva University Hospitals
Georg Homuth: Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt-University Greifswald
Stefan Coassin: Innsbruck Medical University
Gian-Andri Thun: Swiss Tropical and Public Health Institute
Giorgio Pistis: San Raffaele Scientific Institute
Giovanni Gambaro: Columbus-Gemelli University Hospital, Catholic University
Giovanni Malerba: University of Verona
Grant W. Montgomery: Genetic Epidemiology, Queensland Institute of Medical Research, QIMR, PO Royal Brisbane Hospital
Gudny Eiriksdottir: Icelandic Heart Association, Research Institute
Gunnar Jacobs: Institute of Epidemiology and Biobank popgen, Christian-Albrechts University
Guo Li: Cardiovascular Health Research Unit, University of Washington
H-Erich Wichmann: Institute of Epidemiology I, Helmholtz Zentrum München, German Research Center for Environmental Health
Harry Campbell: Centre for Population Health Sciences, University of Edinburgh
Helena Schmidt: Austrian Stroke Prevention Study, Institute of Molecular Biology and Biochemistry, Medical University Graz
Henri Wallaschofski: Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald
Henry Völzke: Institute for Community Medicine, University of Greifswald
Hermann Brenner: German Cancer Research Center (DKFZ)
Heyo K. Kroemer: Institute of Pharmacology, University of Greifswald
Holly Kramer: Loyola Medical Center
Honghuang Lin: Boston University School of Medicine
I. Mateo Leach: University Medical Center Groningen, University of Groningen
Ian Ford: Robertson Centre for Biostatistics, University of Glasgow
Idris Guessous: Primary Care and Emergency Medicine, Geneva University Hospitals, Faculty of Medicine, University of Geneva
Igor Rudan: Centre for Population Health Sciences, University of Edinburgh
Inga Prokopenko: School of Public Health, Imperial College London
Ingrid Borecki: Washington University School of Medicine
Iris M. Heid: Institute of Epidemiology and Preventive Medicine, University of Regensburg
Ivana Kolcic: Croatian Centre for Global Health, University of Split Medical School
Ivana Persico: Institute of Population Genetics—CNR
J. Wouter Jukema: Leiden University Medical Center
James F. Wilson: Centre for Population Health Sciences, University of Edinburgh
Janine F. Felix: Erasmus University Medical Center
Jasmin Divers: Wake Forest University Health Sciences
Jean-Charles Lambert: INSERM U744, Institut Pasteur de Lille
Jeanette M. Stafford: Wake Forest University Health Sciences
Jean-Michel Gaspoz: Primary Care and Emergency Medicine, Geneva University Hospitals, Faculty of Medicine, University of Geneva
Jennifer A. Smith: School of Public Health, University of Michigan
Jessica D. Faul: Survey Research Center, Institute for Social Research, University of Michigan
Jie Jin Wang: Centre for Vision Research, Westmead Millennium Institute, University of Sydney
Jingzhong Ding: Wake Forest School of Medicine
Joel N. Hirschhorn: Boston Children’s Hospital
John Attia: Mayo Clinic
John B. Whitfield: Genetic Epidemiology, Queensland Institute of Medical Research, QIMR, PO Royal Brisbane Hospital
John Chalmers: University of Sydney, The George Institute for Global Health
Jorma Viikari: University of Turku, Turku University Hospital
Josef Coresh: Johns Hopkins Bloomberg School of Public Health
Joshua C. Denny: Vanderbilt University School of Medicine, 448 Eskind Biomedical Library, 2209 Garland Avenue, Nashville, Tennessee 37212, USA
Juha Karjalainen: University of Groningen, University Medical Centre Groningen
Jyotika K. Fernandes: Medical University of South Carolina
Karlhans Endlich: Institute of Anatomy and Cell Biology, University of Greifswald
Katja Butterbach: German Cancer Research Center (DKFZ)
Keith L. Keene: Center for Health Disparities, East Carolina University
Kurt Lohman: Wake Forest School of Medicine
Laura Portas: Institute of Population Genetics—CNR
Lenore J. Launer: Intramural Research Program, Laboratory of Epidemiology, Demography, and Biometry, National Institute on Aging, Gateway Building
Leo-Pekka Lyytikäinen: Fimlab Laboratories, University of Tampere, School of Medicine
Loic Yengo: CNRS UMR 8199
Lude Franke: University of Groningen, University Medical Centre Groningen
Luigi Ferrucci: Clinical Research Branch, National Institute on Aging
Lynda M. Rose: Preventive Medicine, Brigham and Women’s Hospital
Lyudmyla Kedenko: Paracelsus Medical University/Salzburger Landeskliniken
Madhumathi Rao: Tufts University School of Medicine, Tufts Medical Center
Maksim Struchalin: Erasmus University Medical Center
Marcus E. Kleber: Medical Clinic V, Medical Faculty Mannheim, Heidelberg University
Margherita Cavalieri: Austrian Stroke Prevention Study, Medical University Graz
Margot Haun: Innsbruck Medical University
Marilyn C. Cornelis: Harvard School of Public Health
Marina Ciullo: Institute of Genetics and Biophysics "Adriano Buzzati-Traverso"—CNR
Mario Pirastu: Institute of Population Genetics—CNR
Mariza de Andrade: Mayo Clinic
Mark A. McEvoy: Centre for Clinical Epidemiology and Biostatistics, University of Newcastle, Hunter Medical Research Institute, John Hunter Hospital
Mark Woodward: Johns Hopkins Bloomberg School of Public Health
Martin Adam: Swiss Tropical and Public Health Institute
Massimiliano Cocca: San Raffaele Scientific Institute
Matthias Nauck: Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald
Medea Imboden: Swiss Tropical and Public Health Institute
Melanie Waldenberger: Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health
Menno Pruijm: Service of Nephrology, Lausanne University Hospital
Marie Metzger: Inserm UMRS 1018, CESP Team 10, Université Paris-Sud
Michael Stumvoll: University of Leipzig
Michele K. Evans: Health Disparities Research Section, Clinical Research Branch, National Institute on Aging, National Institutes of Health, NIH Biomedical Center
Michele M. Sale: Center for Public Health Genomics, University of Virginia
Mika Kähönen: Tampere University Hospital, University of Tampere, School of Medicine
Mladen Boban: Croatian Centre for Global Health, University of Split Medical School
Murielle Bochud: University Institute of Social and Preventive Medicine, Centre Hospitalier Universitaire Vaudois, University of Lausanne
Myriam Rheinberger: University Hospital Regensburg, Franz-Josef-Strauß-Allee 11, Regensburg 93053, Germany
Niek Verweij: University Medical Center Groningen, University of Groningen
Nabila Bouatia-Naji: INSERM UMR970, Paris Cardiovascular Research Center (PARCC)
Nicholas G. Martin: Genetic Epidemiology, Queensland Institute of Medical Research, QIMR, PO Royal Brisbane Hospital
Nick Hastie: MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh
Nicole Probst-Hensch: Swiss Tropical and Public Health Institute
Nicole Soranzo: Wellcome Trust Sanger Institute
Olivier Devuyst: University of Zurich, Institute of Physiology, Mechanisms of Inherited Kidney Disorders Group
Olli Raitakari: Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, Turku University Hospital
Omri Gottesman: The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
Oscar H. Franco: Erasmus University Medical Center
Ozren Polasek: Croatian Centre for Global Health, University of Split Medical School
Paolo Gasparini: Institute for Maternal and Child Health—IRCCS "Burlo Garofolo" and University of Trieste
Patricia B. Munroe: William Harvey Research Institute, Queen Mary University of London
Paul M. Ridker: Harvard Medical School
Paul Mitchell: Centre for Vision Research, Westmead Millennium Institute, University of Sydney
Paul Muntner: University of Alabama at Birmingham
Christa Meisinger: Institute of Epidemiology II, Helmholtz Zentrum München, German Research Center for Environmental Health
Johannes H. Smit: VU University Medical Center
Peter Kovacs: IFB AdiposityDiseases, University of Leipzig
Philipp S. Wild: Medical University Center Mainz
Philippe Froguel: CNRS UMR 8199
Rainer Rettig: Institute of Physiology, University of Greifswald
Reedik Mägi: Estonian Genome Center of University of Tartu (EGCUT)
Reiner Biffar: Clinic for Prosthodontic Dentistry, Gerostomatology and Material Science, University of Greifswald
Reinhold Schmidt: Austrian Stroke Prevention Study, Medical University Graz
Rita P. S. Middelberg: Genetic Epidemiology, Queensland Institute of Medical Research, QIMR, PO Royal Brisbane Hospital
Robert J. Carroll: Vanderbilt University School of Medicine, 448 Eskind Biomedical Library, 2209 Garland Avenue, Nashville, Tennessee 37212, USA
Brenda W. Penninx: VU University Medical Center
Rodney J. Scott: School of Biomedical Sciences and Pharmacy, University of Newcastle, Hunter Medical Research Institute, John Hunter Hospital
Ronit Katz: Kidney Research Institute, University of Washington
Sanaz Sedaghat: Erasmus University Medical Center
Sarah H. Wild: Centre for Population Health Sciences, University of Edinburgh
Sharon L. R. Kardia: School of Public Health, University of Michigan
Sheila Ulivi: Institute for Maternal and Child Health—IRCCS "Burlo Garofolo"
Shih-Jen Hwang: NHLBI's Framingham Heart Study and the Center for Population Studies
Stefan Enroth: Uppsala University, Genetics and Pathology, Biomedical Center, SciLifeLab, Uppsala University
Stefan Kloiber: Max Planck Institute of Psychiatry
Stella Trompet: Leiden University Medical Center
Benedicte Stengel: Inserm UMRS 1018, CESP Team 10, Université Paris-Sud
Stephen J. Hancock: Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, University of Newcastle, HMRI Building1, Kookaburra Circuit
Stephen T. Turner: Mayo Clinic
Sylvia E. Rosas: Perelman School of Medicine, University of Pennsylvania
Sylvia Stracke: INSERM U744, Institut Pasteur de Lille
Tamara B. Harris: Intramural Research Program, Laboratory of Epidemiology, Demography, and Biometry, National Institute on Aging, Gateway Building
Tanja Zeller: University Heart Center Hamburg, Clinic for general and interventional cardiology
Tatijana Zemunik: Croatian Centre for Global Health, University of Split Medical School
Terho Lehtimäki: Fimlab Laboratories, University of Tampere, School of Medicine
Thomas Illig: Institute of Epidemiology II, Helmholtz Zentrum München, German Research Center for Environmental Health
Thor Aspelund: Icelandic Heart Association, Research Institute
Tiit Nikopensius: Estonian Genome Center of University of Tartu (EGCUT)
Tonu Esko: Boston Children’s Hospital
Toshiko Tanaka: Clinical Research Branch, National Institute on Aging
Ulf Gyllensten: Uppsala University, Genetics and Pathology, Biomedical Center, SciLifeLab, Uppsala University
Uwe Völker: Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt-University Greifswald
Valur Emilsson: Icelandic Heart Association, Research Institute
Veronique Vitart: MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh
Ville Aalto: Turku University Hospital, Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku
Vilmundur Gudnason: Icelandic Heart Association, Research Institute
Vincent Chouraki: INSERM U744, Institut Pasteur de Lille
Wei-Min Chen: Center for Public Health Genomics, University of Virginia
Wilmar Igl: Uppsala University, Genetics and Pathology, Biomedical Center, SciLifeLab, Uppsala University
Winfried März: Synlab Academy, Synlab Services GmbH
Wolfgang Koenig: University of Ulm Medical Centre
Wolfgang Lieb: Institute of Epidemiology and Biobank popgen, Christian-Albrechts University
Ruth J. F. Loos: The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
Yongmei Liu: Wake Forest School of Medicine
Harold Snieder: Unit of Genetic Epidemiology and Bioinformatics, University Medical Center Groningen
Peter P. Pramstaller: Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC), affiliated to the University of Lübeck
Afshin Parsa: University of Maryland Medical School
Jeffrey R. O’Connell: University of Maryland School of Medicine
Katalin Susztak: Perelman School of Medicine, University of Pennsylvania
Pavel Hamet: CRCHUM, University of Montreal, CHUM Research Center, Technopôle Angus
Johanne Tremblay: CRCHUM, University of Montreal, CHUM Research Center, Technopôle Angus
Ian H. de Boer: Kidney Research Institute, University of Washington
Carsten A. Böger: University Hospital Regensburg, Franz-Josef-Strauß-Allee 11, Regensburg 93053, Germany
Wolfram Goessling: Brigham and Women’s Hospital, Harvard Medical School
Daniel I. Chasman: Preventive Medicine, Brigham and Women’s Hospital
Anna Köttgen: Johns Hopkins Bloomberg School of Public Health
W. H. Linda Kao: Johns Hopkins Bloomberg School of Public Health
Caroline S. Fox: NHLBI's Framingham Heart Study and the Center for Population Studies

Nature Communications, 2016, vol. 7, issue 1, 1-19

Abstract: 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.

Date: 2016
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DOI: 10.1038/ncomms10023

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