title: A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
abstract: Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 × 10(-8)) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 × 10(-10)). Very rare coding variants (frequency <0.1%) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.
authors.affiliation: Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Lars G
authors.identifier: http://orcid.org/0000-0002-2110-1690
authors.initials: LG
authors.lastname: Fritsche
authors.affiliation: Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
authors.forename: Wilmar
authors.initials: W
authors.lastname: Igl
authors.affiliation: Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
authors.forename: Jessica N Cooke
authors.identifier: http://orcid.org/0000-0002-4001-8702
authors.initials: JN
authors.lastname: Bailey
authors.affiliation: Institute of Human Genetics, University of Regensburg, Regensburg, Germany.
authors.forename: Felix
authors.initials: F
authors.lastname: Grassmann
authors.affiliation: Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Sebanti
authors.initials: S
authors.lastname: Sengupta
authors.affiliation: Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.|Kidney Epidemiology and Cost Center, Department of Internal Medicine-Nephrology, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Bragg-Gresham
authors.affiliation: School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia.
authors.forename: Kathryn P
authors.initials: KP
authors.lastname: Burdon
authors.affiliation: Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
authors.forename: Scott J
authors.initials: SJ
authors.lastname: Hebbring
authors.affiliation: Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
authors.forename: Cindy
authors.initials: C
authors.lastname: Wen
authors.affiliation: Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
authors.forename: Mathias
authors.initials: M
authors.lastname: Gorski
authors.affiliation: Retina Service, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Ivana K
authors.initials: IK
authors.lastname: Kim
authors.affiliation: Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: David
authors.initials: D
authors.lastname: Cho
authors.affiliation: Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.|Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.|Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.|Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.|Institue de la Vision, Université Pierre et Marie Curie, Paris, France.
authors.forename: Donald
authors.initials: D
authors.lastname: Zack
authors.affiliation: Hôpital Intercommunal de Créteil, Hôpital Henri Mondor, Université Paris Est Créteil, Créteil, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Souied
authors.affiliation: Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.|Department of Ophthalmology, University of Bonn, Bonn, Germany.
authors.forename: Hendrik P N
authors.initials: HP
authors.lastname: Scholl
authors.affiliation: Louis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, Ohio, USA.
authors.forename: Elisa
authors.initials: E
authors.lastname: Bala
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.
authors.forename: Kristine E
authors.initials: KE
authors.lastname: Lee
authors.affiliation: Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.|Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts, USA.
authors.forename: David J
authors.initials: DJ
authors.lastname: Hunter
authors.affiliation: John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
authors.forename: Rebecca J
authors.initials: RJ
authors.lastname: Sardell
authors.affiliation: Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Paul
authors.initials: P
authors.lastname: Mitchell
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, USA.
authors.forename: Joanna E
authors.initials: JE
authors.lastname: Merriam
authors.affiliation: University College London Institute of Ophthalmology, University College London, London, UK.|Moorfields Eye Hospital, London, UK.
authors.forename: Valentina
authors.initials: V
authors.lastname: Cipriani
authors.affiliation: Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
authors.forename: Joshua D
authors.initials: JD
authors.lastname: Hoffman
authors.affiliation: Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
authors.forename: Tina
authors.initials: T
authors.lastname: Schick
authors.affiliation: Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
authors.forename: Yara T E
authors.initials: YT
authors.lastname: Lechanteur
authors.affiliation: Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
authors.forename: Robyn H
authors.initials: RH
authors.lastname: Guymer
authors.affiliation: South Texas Diabetes and Obesity Institute, School of Medicine, University of Texas Rio Grande Valley, Brownsville, Texas, USA.
authors.forename: Matthew P
authors.initials: MP
authors.lastname: Johnson
authors.affiliation: Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
authors.forename: Yingda
authors.initials: Y
authors.lastname: Jiang
authors.affiliation: Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
authors.forename: Chloe M
authors.initials: CM
authors.lastname: Stanton
authors.affiliation: Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.|Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
authors.forename: Gabriëlle H S
authors.initials: GH
authors.lastname: Buitendijk
authors.affiliation: Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.|Quantitative Biomedical Research Center, Department of Clinical Science, University of Texas Southwestern Medical Center, Dallas, Texas, USA.|Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
authors.forename: Xiaowei
authors.initials: X
authors.lastname: Zhan
authors.affiliation: Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Alan M
authors.initials: AM
authors.lastname: Kwong
authors.affiliation: Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Alexis
authors.initials: A
authors.lastname: Boleda
authors.affiliation: Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Matthew
authors.initials: M
authors.lastname: Brooks
authors.affiliation: Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Linn
authors.initials: L
authors.lastname: Gieser
authors.affiliation: Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Rinki
authors.initials: R
authors.lastname: Ratnapriya
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, USA.
authors.forename: Kari E
authors.initials: KE
authors.lastname: Branham
authors.affiliation: Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Johanna R
authors.initials: JR
authors.lastname: Foerster
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, USA.
authors.forename: John R
authors.initials: JR
authors.lastname: Heckenlively
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, USA.
authors.forename: Mohammad I
authors.initials: MI
authors.lastname: Othman
authors.affiliation: School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia.
authors.forename: Brendan J
authors.initials: BJ
authors.lastname: Vote
authors.affiliation: Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
authors.forename: Helena Hai
authors.identifier: http://orcid.org/0000-0002-4270-8707
authors.initials: HH
authors.lastname: Liang
authors.affiliation: Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Souzeau
authors.affiliation: Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
authors.forename: Ian L
authors.initials: IL
authors.lastname: McAllister
authors.affiliation: Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
authors.forename: Timothy
authors.initials: T
authors.lastname: Isaacs
authors.affiliation: Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia.
authors.forename: Janette
authors.initials: J
authors.lastname: Hall
authors.affiliation: Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia.
authors.forename: Stewart
authors.initials: S
authors.lastname: Lake
authors.affiliation: School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia.|Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.|Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
authors.forename: David A
authors.initials: DA
authors.lastname: Mackey
authors.affiliation: Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
authors.forename: Ian J
authors.initials: IJ
authors.lastname: Constable
authors.affiliation: Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia.
authors.forename: Jamie E
authors.initials: JE
authors.lastname: Craig
authors.affiliation: Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
authors.forename: Terrie E
authors.initials: TE
authors.lastname: Kitchner
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.|Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
authors.affiliation: Molecular Medicine Research Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.
authors.forename: Zhiguang
authors.initials: Z
authors.lastname: Su
authors.affiliation: Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
authors.forename: Hongrong
authors.initials: H
authors.lastname: Luo
authors.affiliation: Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
authors.forename: Daniel
authors.initials: D
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
authors.forename: Hong
authors.initials: H
authors.lastname: Ouyang
authors.affiliation: Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
authors.forename: Ken
authors.initials: K
authors.lastname: Flagg
authors.affiliation: Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
authors.forename: Danni
authors.initials: D
authors.lastname: Lin
authors.affiliation: Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
authors.forename: Guanping
authors.initials: G
authors.lastname: Mao
authors.affiliation: Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
authors.forename: Henry
authors.initials: H
authors.lastname: Ferreyra
authors.affiliation: Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
authors.forename: Klaus
authors.initials: K
authors.lastname: Stark
authors.affiliation: EyeCentre Southwest, Stuttgart, Germany.
authors.forename: Claudia N
authors.initials: CN
authors.lastname: von Strachwitz
authors.affiliation: University Eye Clinic, Ludwig Maximilians University, Munich, Germany.
authors.forename: Armin
authors.initials: A
authors.lastname: Wolf
authors.affiliation: Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.|Institute of Human Genetics, University of Regensburg, Regensburg, Germany.|Department of Ophthalmology, University Hospital Regensburg, Regensburg, Germany.
authors.forename: Caroline
authors.initials: C
authors.lastname: Brandl
authors.affiliation: University Eye Clinic, Ludwig Maximilians University, Munich, Germany.
authors.forename: Guenther
authors.initials: G
authors.lastname: Rudolph
authors.affiliation: Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
authors.forename: Matthias
authors.initials: M
authors.lastname: Olden
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA.
authors.forename: Margaux A
authors.initials: MA
authors.lastname: Morrison
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA.
authors.forename: Denise J
authors.initials: DJ
authors.lastname: Morgan
authors.affiliation: Department of Medicine (Biomedical Genetics), Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.|Department of Ophthalmology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.|Department of Neurology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.|Department of Epidemiology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.|Department of Biostatistics, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.
authors.forename: Matthew
authors.initials: M
authors.lastname: Schu
authors.affiliation: Department of Ophthalmology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Republic of Korea.
authors.forename: Jeeyun
authors.initials: J
authors.lastname: Ahn
authors.affiliation: Centre for Experimental Medicine, Queen's University, Belfast, UK.
authors.forename: Giuliana
authors.initials: G
authors.lastname: Silvestri
authors.affiliation: Department of Ophthalmology, University of Thessaly, School of Medicine, Larissa, Greece.
authors.forename: Evangelia E
authors.initials: EE
authors.lastname: Tsironi
authors.affiliation: Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.
authors.forename: Kyu Hyung
authors.initials: KH
authors.lastname: Park
authors.affiliation: Department of Medicine (Biomedical Genetics), Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.|Department of Ophthalmology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.|Department of Neurology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.|Department of Epidemiology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.|Department of Biostatistics, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.
authors.forename: Lindsay A
authors.initials: LA
authors.lastname: Farrer
authors.affiliation: Department of Ophthalmology, Weill Cornell Medical College, New York, New York, USA.
authors.forename: Anton
authors.initials: A
authors.lastname: Orlin
authors.affiliation: Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
authors.forename: Alexander
authors.initials: A
authors.lastname: Brucker
authors.affiliation: Department of Biostatistics and Epidemiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
authors.forename: Mingyao
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of Ophthalmology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
authors.forename: Christine A
authors.initials: CA
authors.lastname: Curcio
authors.affiliation: INSERM, Paris, France.|Institut de la Vision, Department of Genetics, Paris, France.|Centre National de la Recherche Scientifique (CNRS), Paris, France.|Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France.
authors.forename: Saddek
authors.initials: S
authors.lastname: Mohand-Saïd
authors.affiliation: University College London Institute of Ophthalmology, University College London, London, UK.|INSERM, Paris, France.|Institut de la Vision, Department of Genetics, Paris, France.|Centre National de la Recherche Scientifique (CNRS), Paris, France.|Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France.|Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.|Académie des Sciences-Institut de France, Paris, France.
authors.forename: José-Alain
authors.initials: JA
authors.lastname: Sahel
authors.affiliation: INSERM, Paris, France.|Institut de la Vision, Department of Genetics, Paris, France.|Centre National de la Recherche Scientifique (CNRS), Paris, France.|Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Audo
authors.affiliation: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France.
authors.forename: Mustapha
authors.initials: M
authors.lastname: Benchaboune
authors.affiliation: Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
authors.forename: Angela J
authors.initials: AJ
authors.lastname: Cree
authors.affiliation: University Hospital Southampton, Southampton, UK.
authors.forename: Christina A
authors.initials: CA
authors.lastname: Rennie
authors.affiliation: Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
authors.forename: Srinivas V
authors.initials: SV
authors.lastname: Goverdhan
authors.affiliation: Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Michelle
authors.initials: M
authors.lastname: Grunin
authors.affiliation: Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Shira
authors.initials: S
authors.lastname: Hagbi-Levi
authors.affiliation: Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.|Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Peter
authors.initials: P
authors.lastname: Campochiaro
authors.affiliation: Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.|Department of Cell Biology, Duke University, Durham, North Carolina, USA.|Department of Pediatrics, Duke University, Durham, North Carolina, USA.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Katsanis
authors.affiliation: Department of Ophthalmology, University of Bonn, Bonn, Germany.
authors.forename: Frank G
authors.initials: FG
authors.lastname: Holz
authors.affiliation: INSERM, Paris, France.|Institut de la Vision, Department of Genetics, Paris, France.|Centre National de la Recherche Scientifique (CNRS), Paris, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Blond
authors.affiliation: Centre d'Etude du Polymorphisme Humain (CEPH) Fondation Jean Dausset, Paris, France.
authors.forename: Hélène
authors.identifier: http://orcid.org/0000-0003-2115-575X
authors.initials: H
authors.lastname: Blanché
authors.affiliation: Centre d'Etude du Polymorphisme Humain (CEPH) Fondation Jean Dausset, Paris, France.|Commissariat à l'Energie Atomique et aux Energies Alternatives (CEA), Institut de Génomique, Centre National de Génotypage, Evry, France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Deleuze
authors.affiliation: Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
authors.forename: Robert P
authors.initials: RP
authors.lastname: Igo
authors.affiliation: Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
authors.forename: Barbara
authors.initials: B
authors.lastname: Truitt
authors.affiliation: Louis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, Ohio, USA.|Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
authors.forename: Neal S
authors.initials: NS
authors.lastname: Peachey
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.
authors.forename: Stacy M
authors.initials: SM
authors.lastname: Meuer
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.
authors.forename: Chelsea E
authors.initials: CE
authors.lastname: Myers
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.
authors.forename: Emily L
authors.initials: EL
authors.lastname: Moore
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.
authors.forename: Ronald
authors.identifier: http://orcid.org/0000-0002-4428-6237
authors.initials: R
authors.lastname: Klein
authors.affiliation: Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA.|Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA.|Duke Molecular Physiology Institute, Duke University Medical Center, Durham, North Carolina, USA.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Hauser
authors.affiliation: Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA.
authors.forename: Eric A
authors.initials: EA
authors.lastname: Postel
authors.affiliation: John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
authors.forename: Monique D
authors.initials: MD
authors.lastname: Courtenay
authors.affiliation: Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida, USA.
authors.forename: Stephen G
authors.identifier: http://orcid.org/0000-0002-1441-9473
authors.initials: SG
authors.lastname: Schwartz
authors.affiliation: Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida, USA.
authors.forename: Jaclyn L
authors.initials: JL
authors.lastname: Kovach
authors.affiliation: John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
authors.forename: William K
authors.initials: WK
authors.lastname: Scott
authors.affiliation: Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Gerald
authors.initials: G
authors.lastname: Liew
authors.affiliation: Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Ava G
authors.initials: AG
authors.lastname: Tan
authors.affiliation: Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Bamini
authors.initials: B
authors.lastname: Gopinath
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, USA.
authors.forename: John C
authors.initials: JC
authors.lastname: Merriam
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, USA.|Department of Ophthalmology, New York University School of Medicine, New York, New York, USA.
authors.forename: R Theodore
authors.initials: RT
authors.lastname: Smith
authors.affiliation: Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.|Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia.|Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
authors.forename: Jane C
authors.initials: JC
authors.lastname: Khan
authors.affiliation: Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.|Department of Ophthalmology, Cambridge University Hospitals National Health Service (NHS) Foundation Trust, Cambridge, UK.
authors.forename: Humma
authors.initials: H
authors.lastname: Shahid
authors.affiliation: University College London Institute of Ophthalmology, University College London, London, UK.|Moorfields Eye Hospital, London, UK.|Department of Ophthalmology, University of California San Francisco Medical School, San Francisco, California, USA.
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
authors.affiliation: Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
authors.forename: J Allie
authors.initials: JA
authors.lastname: McGrath
authors.affiliation: Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
authors.forename: Reneé
authors.initials: R
authors.lastname: Laux
authors.affiliation: Department of Ophthalmology and Visual Sciences, Vanderbilt University, Nashville, Tennessee, USA.
authors.forename: Milam A
authors.initials: MA
authors.lastname: Brantley
authors.affiliation: Department of Ophthalmology and Visual Sciences, Vanderbilt University, Nashville, Tennessee, USA.
authors.forename: Anita
authors.initials: A
authors.lastname: Agarwal
authors.affiliation: Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
authors.forename: Lebriz
authors.initials: L
authors.lastname: Ersoy
authors.affiliation: Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
authors.forename: Albert
authors.initials: A
authors.lastname: Caramoy
authors.affiliation: Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Langmann
authors.affiliation: Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
authors.forename: Nicole T M
authors.initials: NT
authors.lastname: Saksens
authors.affiliation: Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
authors.forename: Eiko K
authors.initials: EK
authors.lastname: de Jong
authors.affiliation: Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
authors.forename: Carel B
authors.initials: CB
authors.lastname: Hoyng
authors.affiliation: Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
authors.forename: Melinda S
authors.initials: MS
authors.lastname: Cain
authors.affiliation: Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
authors.forename: Andrea J
authors.initials: AJ
authors.lastname: Richardson
authors.affiliation: Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA.
authors.forename: Tammy M
authors.initials: TM
authors.lastname: Martin
authors.affiliation: South Texas Diabetes and Obesity Institute, School of Medicine, University of Texas Rio Grande Valley, Brownsville, Texas, USA.
authors.forename: John
authors.initials: J
authors.lastname: Blangero
authors.affiliation: Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.|Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
authors.forename: Daniel E
authors.initials: DE
authors.lastname: Weeks
authors.affiliation: School of Clinical Sciences, University of Edinburgh, Edinburgh, UK.
authors.forename: Bal
authors.initials: B
authors.lastname: Dhillon
authors.affiliation: Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
authors.forename: Cornelia M
authors.initials: CM
authors.lastname: van Duijn
authors.affiliation: Center for Inherited Disease Research (CIDR) Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Kimberly F
authors.initials: KF
authors.lastname: Doheny
authors.affiliation: Center for Inherited Disease Research (CIDR) Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Jane
authors.initials: J
authors.lastname: Romm
authors.affiliation: Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.|Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
authors.forename: Caroline C W
authors.initials: CC
authors.lastname: Klaver
authors.affiliation: Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
authors.forename: Caroline
authors.initials: C
authors.lastname: Hayward
authors.affiliation: Department of Ophthalmology, David Geffen School of Medicine, Stein Eye Institute, University of California, Los Angeles, Los Angeles, California, USA.|Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
authors.forename: Michael B
authors.initials: MB
authors.lastname: Gorin
authors.affiliation: Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA.
authors.forename: Michael L
authors.initials: ML
authors.lastname: Klein
authors.affiliation: Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
authors.forename: Paul N
authors.initials: PN
authors.lastname: Baird
authors.affiliation: Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.|Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
authors.forename: Anneke I
authors.initials: AI
authors.lastname: den Hollander
authors.affiliation: Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
authors.forename: Sascha
authors.initials: S
authors.lastname: Fauser
authors.affiliation: University College London Institute of Ophthalmology, University College London, London, UK.|Moorfields Eye Hospital, London, UK.|Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
authors.forename: John R W
authors.initials: JR
authors.lastname: Yates
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, USA.|Department of Pathology and Cell Biology, Columbia University, New York, New York, USA.
authors.forename: Rando
authors.initials: R
authors.lastname: Allikmets
authors.affiliation: Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Jie Jin
authors.initials: JJ
authors.lastname: Wang
authors.affiliation: Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.|Center for Translational Medicine, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah, USA.|Division of Preventive Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Debra A
authors.initials: DA
authors.lastname: Schaumberg
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.
authors.forename: Barbara E K
authors.initials: BE
authors.lastname: Klein
authors.affiliation: Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
authors.forename: Stephanie A
authors.initials: SA
authors.lastname: Hagstrom
authors.affiliation: Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Itay
authors.initials: I
authors.lastname: Chowers
authors.affiliation: Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Lotery
authors.affiliation: INSERM, Paris, France.|Institut de la Vision, Department of Genetics, Paris, France.|Centre National de la Recherche Scientifique (CNRS), Paris, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Léveillard
authors.affiliation: Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.|Molecular Medicine Research Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.
authors.forename: Kang
authors.initials: K
authors.lastname: Zhang
authors.affiliation: Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
authors.forename: Murray H
authors.initials: MH
authors.lastname: Brilliant
authors.affiliation: School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia.|Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.|Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
authors.forename: Alex W
authors.initials: AW
authors.lastname: Hewitt
authors.affiliation: Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Anand
authors.initials: A
authors.lastname: Swaroop
authors.affiliation: Division of Epidemiology and Clinical Applications, Clinical Trials Branch, National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Emily Y
authors.initials: EY
authors.lastname: Chew
authors.affiliation: John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA.
authors.forename: Margaret
authors.initials: M
authors.lastname: DeAngelis
authors.affiliation: Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Dwight
authors.initials: D
authors.lastname: Stambolian
authors.affiliation: Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.|Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Haines
authors.affiliation: Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
authors.forename: Sudha K
authors.initials: SK
authors.lastname: Iyengar
authors.affiliation: Institute of Human Genetics, University of Regensburg, Regensburg, Germany.
authors.forename: Bernhard H F
authors.initials: BH
authors.lastname: Weber
authors.affiliation: Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Gonçalo R
authors.initials: GR
authors.lastname: Abecasis
authors.affiliation: Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
authors.forename: Iris M
authors.initials: IM
authors.lastname: Heid
mesh_terms: D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D009154:Mutation