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

Author

Listed:
  • 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
    Institute for Community Medicine, University of Greifswald)

  • Mathias Gorski

    (Institute of Epidemiology and Preventive Medicine, University of Regensburg
    University Hospital Regensburg, Franz-Josef-Strauß-Allee 11, Regensburg 93053, Germany)

  • 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
    University Hospital Regensburg, Franz-Josef-Strauß-Allee 11, Regensburg 93053, Germany)

  • 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
    Boston University School of Medicine)

  • Tune H. Pers

    (Boston Children’s Hospital
    Medical and Population Genetics Program, Broad Institute of MIT and Harvard)

  • 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
    Centre for Medical Systems Biology Leiden)

  • 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)
    German Cancer Consortium (DKTK))

  • 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
    Geriatric Research and Education Clinical Center, Veterans Administration Medical Center)

  • 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
    University of Iceland)

  • 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)
    Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocenter)

  • 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
    Geriatric Research and Education Clinical Center, Veterans Administration Medical Center)

  • 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
    Université Bordeaux, 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
    German Center for Cardiovascular Research (DZHK), Partner Site Hamburg/Lübeck/Kiel, Martinistraße 52, Hamburg 20246, Germany)

  • 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
    INSERM U1078, Etablissement Français du Sang)

  • 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
    Institute of Molecular Genetics-CNR)

  • 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
    Institute of Epidemiology II, Helmholtz Zentrum München, German Research Center for Environmental Health
    German Center for Diabetes Research (DZD))

  • 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
    Clinical Research Design, Information Technology and Statistical Support, Hunter Medical Research Institute, Newcastle)

  • 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
    University of Basel)

  • 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
    Institute of Medical Informatics, Biometry and Epidemiology, Ludwig-Maximilians-Universität, Ingolstädter Landstrasse 1
    Klinikum Grosshadern)

  • 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
    German Center for Cardiovascular Research (DZHK), Partner site Greifswald, Ferdinand-Sauerbruch-Straße, Greifswald 17475, Germany)

  • Henry Völzke

    (Institute for Community Medicine, University of Greifswald
    German Center for Cardiovascular Research (DZHK), Partner site Greifswald, Ferdinand-Sauerbruch-Straße, Greifswald 17475, Germany)

  • Hermann Brenner

    (German Cancer Research Center (DKFZ)
    German Cancer Consortium (DKTK))

  • 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
    Community Prevention Unit, University Institute of Social and Preventive Medicine, Lausanne University Hospital
    Rollins School of Public Health, Emory University)

  • 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
    Institute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health)

  • 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
    Interuniversity Cardiology Institute of the Netherlands (ICIN)
    Einthoven Laboratory for Experimental Vascular Medicine
    Durrer Center for Cardiogenetic Research)

  • 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
    Medical and Population Genetics Program, Broad Institute of MIT and Harvard
    Harvard Medical School)

  • John Attia

    (Mayo Clinic
    Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, University of Newcastle, HMRI Building1, Kookaburra Circuit)

  • 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
    Welch Center for Prevention, Epidemiology and Clinical Research)

  • 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
    Lille Pasteur Institute
    Lille II University)

  • 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
    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
    University of Sydney, The George Institute for Global Health
    University of Turku, Turku University Hospital
    The George Institute for Global Health, University of Oxford)

  • Martin Adam

    (Swiss Tropical and Public Health Institute
    University of Basel)

  • Massimiliano Cocca

    (San Raffaele Scientific Institute)

  • Matthias Nauck

    (Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald
    German Center for Cardiovascular Research (DZHK), Partner site Greifswald, Ferdinand-Sauerbruch-Straße, Greifswald 17475, Germany)

  • Medea Imboden

    (Swiss Tropical and Public Health Institute
    University of Basel)

  • 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)
    Paris Descartes University, Faculty of medicine, Paris Cité Sorbonne)

  • Nicholas G. Martin

    (Genetic Epidemiology, Queensland Institute of Medical Research, QIMR, PO Royal Brisbane Hospital
    Brigham and Women’s Hospital, Harvard Medical School)

  • Nick Hastie

    (MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh)

  • Nicole Probst-Hensch

    (Swiss Tropical and Public Health Institute
    University of Basel)

  • 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
    NIHR Barts Cardiovascular Biomedical Research Unit, 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
    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
    Lille Pasteur Institute
    Lille II University)

  • 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
    Clinical Research Design, Information Technology and Statistical Support, Hunter Medical Research Institute, Newcastle)

  • Stephen T. Turner

    (Mayo Clinic)

  • Sylvia E. Rosas

    (Perelman School of Medicine, University of Pennsylvania)

  • Sylvia Stracke

    (INSERM U744, Institut Pasteur de Lille
    Clinic for Internal Medicine A, University of Greifswald)

  • 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
    German Center for Cardiovascular Research (DZHK), Partner Site Hamburg/Lübeck/Kiel, Martinistraße 52, Hamburg 20246, Germany)

  • 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
    University of Iceland)

  • Tiit Nikopensius

    (Estonian Genome Center of University of Tartu (EGCUT)
    Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocenter)

  • Tonu Esko

    (Boston Children’s Hospital
    Estonian Genome Center of University of Tartu (EGCUT)
    Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocenter)

  • 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
    German Center for Cardiovascular Research (DZHK), Partner site Greifswald, Ferdinand-Sauerbruch-Straße, Greifswald 17475, Germany)

  • Valur Emilsson

    (Icelandic Heart Association, Research Institute
    Faculty of Pharmaceutical Sciences, University of Iceland)

  • 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
    University of Iceland)

  • 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
    The Mindich Child Health and Development Institute, Ichan 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
    General Central Hospital
    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
    Harvard Medical School)

  • Anna Köttgen

    (Johns Hopkins Bloomberg School of Public Health
    University Hospital Freiburg)

  • W. H. Linda Kao

    (Johns Hopkins Bloomberg School of Public Health
    Welch Center for Prevention, Epidemiology and Clinical Research)

  • Caroline S. Fox

    (NHLBI's Framingham Heart Study and the Center for Population Studies
    Brigham and Women s Hospital, Harvard Medical School)

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.

Suggested Citation

  • 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 , 2016. "Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function," Nature Communications, Nature, vol. 7(1), pages 1-19, April.
  • Handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms10023
    DOI: 10.1038/ncomms10023
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    1. Jacob Joseph & Chang Liu & Qin Hui & Krishna Aragam & Zeyuan Wang & Brian Charest & Jennifer E. Huffman & Jacob M. Keaton & Todd L. Edwards & Serkalem Demissie & Luc Djousse & Juan P. Casas & J. Micha, 2022. "Genetic architecture of heart failure with preserved versus reduced ejection fraction," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
    2. Amil M. Shah & Peder L. Myhre & Victoria Arthur & Pranav Dorbala & Humaira Rasheed & Leo F. Buckley & Brian Claggett & Guning Liu & Jianzhong Ma & Ngoc Quynh Nguyen & Kunihiro Matsushita & Chiadi Ndum, 2024. "Large scale plasma proteomics identifies novel proteins and protein networks associated with heart failure development," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
    3. Pascal Schlosser & Adrienne Tin & Pamela R. Matias-Garcia & Chris H. L. Thio & Roby Joehanes & Hongbo Liu & Antoine Weihs & Zhi Yu & Anselm Hoppmann & Franziska Grundner-Culemann & Josine L. Min & Ade, 2021. "Meta-analyses identify DNA methylation associated with kidney function and damage," Nature Communications, Nature, vol. 12(1), pages 1-16, December.
    4. Matthias Wuttke & Eva König & Maria-Alexandra Katsara & Holger Kirsten & Saeed Khomeijani Farahani & Alexander Teumer & Yong Li & Martin Lang & Burulca Göcmen & Cristian Pattaro & Dorothee Günzel & An, 2023. "Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
    5. Yu Yan & Hongbo Liu & Amin Abedini & Xin Sheng & Matthew Palmer & Hongzhe Li & Katalin Susztak, 2024. "Unraveling the epigenetic code: human kidney DNA methylation and chromatin dynamics in renal disease development," Nature Communications, Nature, vol. 15(1), pages 1-17, December.

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