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⇱ Seven new loci associated with age-related macular degeneration | Nature Genetics

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Abstract

Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry. We identified 19 loci associated at P < 5 × 10−8. These loci show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis. Our results include seven loci with associations reaching P < 5 × 10−8 for the first time, near the genes COL8A1-FILIP1L, IER3-DDR1, SLC16A8, TGFBR1, RAD51B, ADAMTS9 and B3GALTL. A genetic risk score combining SNP genotypes from all loci showed similar ability to distinguish cases and controls in all samples examined. Our findings provide new directions for biological, genetic and therapeutic studies of AMD.

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Figure 1: Summary of GWAS results.
Figure 2: Sensitivity analysis.
Figure 3: Risk score analysis.

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NCBI Reference Sequence

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Acknowledgements

We are indebted to all the participants who volunteered their time, DNA and information to make this research study possible. We are also in great debt to the clinicians, nurses and research staff who participated in patient recruitment and phenotyping. We thank H. Chin for constant support and encouragement, which helped us bring this project to completion. We thank S. Miller and J. Barb for access to RPE expression data and the MIGEN study group for use of their genotype data. We thank C. Pappas, N. Miller, J. Hageman, W. Hubbard, L. Lucci, A. Vitale, P. Bernstein and N. Amin for technical and clinical assistance. We thank E. Rochtchina, A.C. Viswanathan, J. Xie, M. Inouye, E.G. Holliday, J. Attia and R.J. Scott for contributions to the Blue Mountains Eye Study GWAS. We thank members of the Genetic Factors in AMD Study Group, the Scottish Macula Society Study Group and the Wellcome Trust Clinical Research facility at Southampton General Hospital. We thank T. Peto and colleagues at the Reading Centre, Moorfields Eye Hospital and C. Brussee and A. Hooghart for help in patient recruitment and phenotyping. Full details of funding sources can be found in the Supplementary Note.

Author information

Author notes

  1. Lars G Fritsche, Wei Chen, Matthew Schu, Brian L Yaspan and Yi Yu: These authors contributed equally to this work.

  2. Rando Allikmets, Paul N Baird, Michael B Gorin, Jie Jin Wang, Caroline C W Klaver, Johanna M Seddon, Margaret A Pericak-Vance, Sudha K Iyengar, John R W Yates, Anand Swaroop, Bernhard H F Weber, Michiaki Kubo, Margaret M DeAngelis, Thierry Léveillard, Unnur Thorsteinsdottir, Jonathan L Haines, Lindsay A Farrer, Iris M Heid and Gonçalo R Abecasis: These authors jointly directed this work.

Authors and Affiliations

  1. Institute of Human Genetics, University of Regensburg, Regensburg, Germany

    Lars G Fritsche & Bernhard H F Weber

  2. Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA

    Lars G Fritsche, Wei Chen, Xueling Sim & Gonçalo R Abecasis

  3. Division of Pediatric Pulmonary Medicine, Department of Pediatrics, Allergy and Immunology, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center (UPMC), University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA

    Wei Chen

  4. Department of Medicine, Section of Biomedical Genetics, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA

    Matthew Schu, Gyungah Jun & Lindsay A Farrer

  5. Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA

    Brian L Yaspan & Jonathan L Haines

  6. Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA

    Brian L Yaspan & Jonathan L Haines

  7. Ophthalmic Epidemiology and Genetics Service, Tufts Medical Center, Boston, Massachusetts, USA

    Yi Yu, Kimberly A Chin, Robyn Reynolds & Johanna M Seddon

  8. deCODE Genetics, Reykjavik, Iceland

    Gudmar Thorleifsson, Hreinn Stefansson, Kari Stefansson & Unnur Thorsteinsdottir

  9. Department of Molecular Biology and Genetics, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Donald J Zack

  10. Department of Genetics, Institut de la Vision, Université Pierre et Marie Curie–Université Paris 6, Unité Mixte de Recherche Scientifique (UMRS) 968, Paris, France

    Donald J Zack, Isabelle Audo, José-Alain Sahel & Thierry Léveillard

  11. Department of Neuroscience, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Donald J Zack & Peter A Campochiaro

  12. Institute of Genetic Medicine, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Donald J Zack

  13. Laboratory for Genotyping Development, Research Group for Genotyping, Center for Genomic Medicine (CGM), RIKEN, Yokohama, Japan

    Satoshi Arakawa & Michiaki Kubo

  14. Moorfields Eye Hospital, London, UK

    Valentina Cipriani, Alan C Bird, Anthony T Moore, Andrew R Webster & John R W Yates

  15. Institute of Ophthalmology, University College London, London, UK

    Valentina Cipriani, Isabelle Audo, Alan C Bird, Anthony T Moore, José-Alain Sahel, Andrew R Webster & John R W Yates

  16. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA

    Stephan Ripke & Mark J Daly

  17. Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA

    Stephan Ripke

  18. Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA

    Robert P Igo Jr, Peronne Joseph, Barbara J Truitt & Sudha K Iyengar

  19. Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands

    Gabriëlle H S Buitendijk, André G Uitterlinden, Cornelia M van Duijn, Johannes R Vingerling & Caroline C W Klaver

  20. Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands

    Gabriëlle H S Buitendijk, Johannes R Vingerling & Caroline C W Klaver

  21. Centre for Molecular Epidemiology, National University of Singapore, Singapore

    Xueling Sim

  22. Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA

    Daniel E Weeks

  23. Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA

    Daniel E Weeks

  24. Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia

    Robyn H Guymer, Melinda S Cain, Andrea J Richardson, Tien Y Wong, Paul N Baird & Jie Jin Wang

  25. Department of Ophthalmology, Columbia University, New York, New York, USA

    Joanna E Merriam, Gaetano R Barile, R Theodore Smith & Rando Allikmets

  26. Macular Degeneration Center, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA

    Peter J Francis & Michael L Klein

  27. Department of Bioengineering, University of California, San Diego, La Jolla, California, USA

    Gregory Hannum

  28. Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA

    Anita Agarwal

  29. Department of Ophthalmology & Visual Sciences, Vanderbilt University School of Medicine, Nashville, Tennessee, USA

    Anita Agarwal

  30. Department of Ophthalmology, University of Edinburgh and Princess Alexandra Eye Pavilion, Edinburgh, UK

    Ana Maria Armbrecht, Baljean Dhillon & Saddek Mohand-Saïd

  31. Institut National de la Santé et de la Recherche Médicale (INSERM) U968, Paris, France

    Isabelle Audo, José-Alain Sahel & Thierry Léveillard

  32. Centre National de la Recherche Scientifique (CNRS), UMR 7210, Paris, France

    Isabelle Audo, Saddek Mohand-Saïd, José-Alain Sahel & Thierry Léveillard

  33. Singapore Eye Research Institute, Singapore National Eye Centre, Singapore

    Tin Aung, Ching-Yu Cheng, Belinda K Cornes, Eranga N Vithana & Tien Y Wong

  34. Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore

    Tin Aung, Ching-Yu Cheng, Eranga N Vithana & Tien Y Wong

  35. Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM–Direction de l'Hospitalisation et de l'Organisation des Soins, Centres d'Investigation Clinique 503, Paris, France

    Mustapha Benchaboune, Saddek Mohand-Saïd & José-Alain Sahel

  36. Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK

    Paul N Bishop

  37. Central Manchester University Hospitals National Health Service (NHS) Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK

    Paul N Bishop

  38. Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, USA

    Kari E Branham, John R Heckenlively, Mohammad I Othman & Anand Swaroop

  39. Neurobiology Neurodegeneration & Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA

    Matthew Brooks, Radu Cojocaru, James S Friedman, Neel Gupta, Rinki Ratna Priya & Anand Swaroop

  40. Scheie Eye Institute, Penn Presbyterian Medical Center, Philadelphia, Pennsylvania, USA

    Alexander J Brucker

  41. John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA

    William H Cade, Adam C Naj, William K Scott & Margaret A Pericak-Vance

  42. Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA

    William H Cade, Adam C Naj, William K Scott & Margaret A Pericak-Vance

  43. Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Peter A Campochiaro & Hendrik P N Scholl

  44. Immunopathology Section, Laboratory of Immunology, National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA

    Chi-Chao Chan

  45. Saw Swee Hock School of Public Health, National University of Singapore, Singapore

    Ching-Yu Cheng

  46. Centre for Quantitative Medicine, Office of Clinical Sciences, Duke–National University of Singapore Graduate Medical School, Singapore

    Ching-Yu Cheng

  47. Division of Epidemiology and Clinical Applications, Clinical Trials Branch, National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA

    Emily Y Chew

  48. Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

    Itay Chowers

  49. Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK

    David G Clayton, Jane C Khan, Humma Shahid & John R W Yates

  50. Department of Health Promotion and Development, School of Nursing, University of Pittsburgh, Pittsburgh, Pennsylvania, USA

    Yvette P Conley

  51. Institute for Molecular Biology, University of Oregon, Eugene, Oregon, USA

    Albert O Edwards

  52. Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece

    Evangelos Evangelou

  53. Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA

    Jesen Fagerness

  54. Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA

    Jesen Fagerness

  55. Department of Ophthalmology, University of California, San Diego, La Jolla, California, USA

    Henry A Ferreyra, Guy Hughes, Igor Kozak, Clara J Lee, Ming Zhang, Ling Zhao & Kang Zhang

  56. Shiley Eye Center, University of California, San Diego, La Jolla, California, USA

    Henry A Ferreyra, Guy Hughes, Igor Kozak, Clara J Lee, Ming Zhang, Ling Zhao & Kang Zhang

  57. Department of Ophthalmology, National University Hospital, Reykjavik, Iceland

    Asbjorg Geirsdottir & Haraldur Sigurdsson

  58. Glaucoma Project, Vision Research Foundation, Sankara Nethralaya, Chennai, India

    Ronnie J George & Lingam Vijaya

  59. Institute of Genetic Epidemiology, Helmholtz Zentrum München–Deutsches Forschungszentrum für Gesundheit und Umwelt, Neuherberg, Germany

    Christian Gieger & Iris M Heid

  60. Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA

    Stephanie A Hagstrom, Gayle J T Pauer & Neal S Peachey

  61. Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK

    Simon P Harding

  62. Augenklinik, Ludwig-Maximilians-Universität München, Munich, Germany

    Christos Haritoglou & Guenther Rudolph

  63. Department of Ophthalmology, University of Bonn, Bonn, Germany

    Frank G Holz & Hendrik P N Scholl

  64. Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, USA

    Guy Hughes, Clara J Lee, Ming Zhang, Ling Zhao & Kang Zhang

  65. Department of Medicine, Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, California, USA

    John P A Ioannidis

  66. Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA

    John P A Ioannidis

  67. Department of Statistics, Stanford University School of Humanities and Sciences, Stanford, California, USA

    John P A Ioannidis

  68. Department of Ophthalmology, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan

    Tatsuro Ishibashi

  69. Department of Ophthalmology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA

    Gyungah Jun & Lindsay A Farrer

  70. Department of Biostatistics, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA

    Gyungah Jun & Lindsay A Farrer

  71. Fondation Jean Dausset, Centre d'Etude du Polymorphisme Humain (CEPH), Paris, France

    Yoichiro Kamatani & G Mark Lathrop

  72. Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA

    Nicholas Katsanis

  73. Department of Cell Biology, Duke University, Durham, North Carolina, USA

    Nicholas Katsanis

  74. Department of Pediatrics, Duke University, Durham, North Carolina, USA

    Nicholas Katsanis

  75. Department of Ophthalmology, Julius-Maximilians-Universität, Würzburg, Germany

    Claudia N Keilhauer

  76. Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia

    Jane C Khan

  77. Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, Western Australia, Australia

    Jane C Khan

  78. Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA

    Ivana K Kim, Debra A Schaumberg & Lucia Sobrin

  79. Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA

    Ivana K Kim & Lucia Sobrin

  80. Department of Environmental Medicine, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan

    Yutaka Kiyohara

  81. Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA

    Barbara E K Klein, Ronald Klein, Kristine E Lee & Chelsea E Myers

  82. Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, USA

    Jaclyn L Kovach & Stephen G Schwartz

  83. Institute of Human Genetics, Helmholtz Zentrum München–Deutsches Forschungszentrum für Gesundheit und Umwelt, Neuherberg, Germany

    Peter Lichtner & Thomas Meitinger

  84. Faculty of Medicine, Clinical and Experimental Sciences, University of Southampton, Southampton, UK

    Andrew J Lotery

  85. Institute of Human Genetics, Technische Universität München, Munich, Germany

    Thomas Meitinger

  86. Department of Ophthalmology and the Westmead Millennium Institute, Centre for Vision Research, University of Sydney, Sydney, New South Wales, Australia

    Paul Mitchell & Jie Jin Wang

  87. Department of Therapeutics, Institut de la Vision, Université Pierre et Marie Curie–Université Paris 6, UMRS 968, Paris, France

    Saddek Mohand-Saïd

  88. Department of Ophthalmology and Visual Sciences, University of Utah, John A. Moran Eye Center, Salt Lake City, Utah, USA

    Denise J Morgan, Margaux A Morrison & Margaret M DeAngelis

  89. Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan

    Yusuke Nakamura

  90. Laboratory for Statistical Analysis, CGM, RIKEN, Yokohama, Japan

    Yukinori Okada & Atsushi Takahashi

  91. Department of Ophthalmology, Weill Cornell Medical College, New York, New York, USA

    Anton Orlin

  92. Department of Ophthalmology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA

    M Carolina Ortube & Michael B Gorin

  93. Jules Stein Eye Institute, Los Angeles, California, USA

    M Carolina Ortube & Michael B Gorin

  94. Moran Center for Translational Medicine, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah, USA

    Chris Pappas & Gregory S Hageman

  95. Research Service, Louis Stokes Veteran Affairs Medical Center, Cleveland, Ohio, USA

    Kyu Hyung Park

  96. Laboratory of Integrative Bioinformatics and Genomics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France

    Neal S Peachey & Gwen M Sturgill-Short

  97. Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota, USA

    Olivier Poch & Raymond Ripp

  98. Fondation Ophtalmologique Adolphe de Rothschild, Paris, France

    Euijung Ryu & Nirubol Tosakulwong

  99. Académie des Sciences–Institut de France, Paris, France

    José-Alain Sahel

  100. Division of Preventive Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA

    José-Alain Sahel

  101. Department of Ophthalmology, Addenbrooke's Hospital, Cambridge, UK

    Debra A Schaumberg

  102. Faculty of Medicine, University of Iceland, Reykjavik, Iceland

    Humma Shahid

  103. Centre for Vision and Vascular Science, Queen's University, Belfast, UK

    Haraldur Sigurdsson, Kari Stefansson & Unnur Thorsteinsdottir

  104. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA

    Giuliana Silvestri

  105. Department of Biomedical Engineering, Columbia University, New York, New York, USA

    Theru A Sivakumaran

  106. Centre de Recherche Clinique d'Ophthalmologie, Hôpital Intercommunal de Créteil, Hôpital Henri Mondor, Université Paris Est, Créteil, France

    R Theodore Smith

  107. Department of Ophthalmology and Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA

    Eric H Souied

  108. Department of Ophthalmology, University of Thessaly School of Medicine, Larissa, Greece

    Dwight E Stambolian

  109. Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands

    Evangelia E Tsironi

  110. Institute of Epidemiology I, Helmholtz Zentrum München–Deutsches Forschungszentrum für Gesundheit und Umwelt, Neuherberg, Germany

    André G Uitterlinden

  111. Institute of Medical Informatics, Ludwig-Maximilians-Universität and Klinikum Großhadern, Munich, Germany

    H-Erich Wichmann

  112. Institute of Biometry, Ludwig-Maximilians-Universität and Klinikum Großhadern, Munich, Germany

    H-Erich Wichmann

  113. Institute of Epidemiology, Ludwig-Maximilians-Universität and Klinikum Großhadern, Munich, Germany

    H-Erich Wichmann

  114. Department of Epidemiology and Preventive Medicine, University of Regensburg, Regensburg, Germany

    H-Erich Wichmann

  115. Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, UK

    Thomas W Winkler & Iris M Heid

  116. Centre National de Génotypage, Centre d'Energie Atomique–Institut de Génomique (IG), Evry, France

    Alan F Wright

  117. Molecular Medicine Research Center, West China Hospital, Sichuan University, Chengdu, China

    Diana Zelenika & G Mark Lathrop

  118. Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China

    Ming Zhang & Kang Zhang

  119. Center for Translational Medicine, University of Utah, John A. Moran Eye Center, Salt Lake City, Utah, USA

    Ming Zhang & Kang Zhang

  120. Department of Pathology & Cell Biology, Columbia University, New York, New York, USA

    Rando Allikmets

  121. Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.,

    Michael B Gorin

  122. Department of Ophthamology, Tufts University School of Medicine, Boston, Massachusetts, USA

    Johanna M Seddon

  123. Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA

    Sudha K Iyengar

  124. Department of Ophthalmology and Visual Sciences, Case Western Reserve University, Cleveland, Ohio, USA

    Sudha K Iyengar

  125. Center for Clinical Investigation, Case Western Reserve University, Cleveland, Ohio, USA

    Sudha K Iyengar

  126. Department of Neurology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA

    Lindsay A Farrer

  127. Department of Epidemiology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA

    Lindsay A Farrer

Consortia

The AMD Gene Consortium

  • Lars G Fritsche
  • , Wei Chen
  • , Matthew Schu
  • , Brian L Yaspan
  • , Yi Yu
  • , Gudmar Thorleifsson
  • , Donald J Zack
  • , Satoshi Arakawa
  • , Valentina Cipriani
  • , Stephan Ripke
  • , Robert P Igo Jr
  • , Gabriëlle H S Buitendijk
  • , Xueling Sim
  • , Daniel E Weeks
  • , Robyn H Guymer
  • , Joanna E Merriam
  • , Peter J Francis
  • , Gregory Hannum
  • , Anita Agarwal
  • , Ana Maria Armbrecht
  • , Isabelle Audo
  • , Tin Aung
  • , Gaetano R Barile
  • , Mustapha Benchaboune
  • , Alan C Bird
  • , Paul N Bishop
  • , Kari E Branham
  • , Matthew Brooks
  • , Alexander J Brucker
  • , William H Cade
  • , Melinda S Cain
  • , Peter A Campochiaro
  • , Chi-Chao Chan
  • , Ching-Yu Cheng
  • , Emily Y Chew
  • , Kimberly A Chin
  • , Itay Chowers
  • , David G Clayton
  • , Radu Cojocaru
  • , Yvette P Conley
  • , Belinda K Cornes
  • , Mark J Daly
  • , Baljean Dhillon
  • , Albert O Edwards
  • , Evangelos Evangelou
  • , Jesen Fagerness
  • , Henry A Ferreyra
  • , James S Friedman
  • , Asbjorg Geirsdottir
  • , Ronnie J George
  • , Christian Gieger
  • , Neel Gupta
  • , Stephanie A Hagstrom
  • , Simon P Harding
  • , Christos Haritoglou
  • , John R Heckenlively
  • , Frank G Holz
  • , Guy Hughes
  • , John P A Ioannidis
  • , Tatsuro Ishibashi
  • , Peronne Joseph
  • , Gyungah Jun
  • , Yoichiro Kamatani
  • , Nicholas Katsanis
  • , Claudia N Keilhauer
  • , Jane C Khan
  • , Ivana K Kim
  • , Yutaka Kiyohara
  • , Barbara E K Klein
  • , Ronald Klein
  • , Jaclyn L Kovach
  • , Igor Kozak
  • , Clara J Lee
  • , Kristine E Lee
  • , Peter Lichtner
  • , Andrew J Lotery
  • , Thomas Meitinger
  • , Paul Mitchell
  • , Saddek Mohand-Saïd
  • , Anthony T Moore
  • , Denise J Morgan
  • , Margaux A Morrison
  • , Chelsea E Myers
  • , Adam C Naj
  • , Yusuke Nakamura
  • , Yukinori Okada
  • , Anton Orlin
  • , M Carolina Ortube
  • , Mohammad I Othman
  • , Chris Pappas
  • , Kyu Hyung Park
  • , Gayle J T Pauer
  • , Neal S Peachey
  • , Olivier Poch
  • , Rinki Ratna Priya
  • , Robyn Reynolds
  • , Andrea J Richardson
  • , Raymond Ripp
  • , Guenther Rudolph
  • , Euijung Ryu
  • , José-Alain Sahel
  • , Debra A Schaumberg
  • , Hendrik P N Scholl
  • , Stephen G Schwartz
  • , William K Scott
  • , Humma Shahid
  • , Haraldur Sigurdsson
  • , Giuliana Silvestri
  • , Theru A Sivakumaran
  • , R Theodore Smith
  • , Lucia Sobrin
  • , Eric H Souied
  • , Dwight E Stambolian
  • , Hreinn Stefansson
  • , Gwen M Sturgill-Short
  • , Atsushi Takahashi
  • , Nirubol Tosakulwong
  • , Barbara J Truitt
  • , Evangelia E Tsironi
  • , André G Uitterlinden
  • , Cornelia M van Duijn
  • , Lingam Vijaya
  • , Johannes R Vingerling
  • , Eranga N Vithana
  • , Andrew R Webster
  • , H-Erich Wichmann
  • , Thomas W Winkler
  • , Tien Y Wong
  • , Alan F Wright
  • , Diana Zelenika
  • , Ming Zhang
  • , Ling Zhao
  • , Kang Zhang
  • , Michael L Klein
  • , Gregory S Hageman
  • , G Mark Lathrop
  • , Kari Stefansson
  • , Rando Allikmets
  • , Paul N Baird
  • , Michael B Gorin
  • , Jie Jin Wang
  • , Caroline C W Klaver
  • , Johanna M Seddon
  • , Margaret A Pericak-Vance
  • , Sudha K Iyengar
  • , John R W Yates
  • , Anand Swaroop
  • , Bernhard H F Weber
  • , Michiaki Kubo
  • , Margaret M DeAngelis
  • , Thierry Léveillard
  • , Unnur Thorsteinsdottir
  • , Jonathan L Haines
  • , Lindsay A Farrer
  • , Iris M Heid
  •  & Gonçalo R Abecasis

Contributions

AMD Gene Analysis Committee: L.G.F., W.C., M.S., B.L.Y., Y.Y., L.A.F., I.M.H. (co-lead) and G.R.A. (co-lead). AMD Gene Phenotype Committee: R.K., C.C.W.K., T.L., J.M.S. (lead) and J.J.W. (co-lead). AMD Gene Steering Committee: B.H.F.W. (chair, senior executive committee), G.R.A. (senior executive committee), M.M.D. (senior executive committee), J.L.H. (senior executive committee), S.K.I. (senior executive committee), M.A.P.-V. (senior executive committee), R.A., P.N. Baird, C.C.W.K., B.E.K.K., M.L.K., M.K., T.L., J.M.S., U.T., D.E.W., J.R.W.Y. and K.Z. AMD-EU-JHU: D.J.Z., I.A., M. Benchaboune, A.C.B., P.A.C., I.C., F.G.H., Y. Kamatani, N.K., A.J.L., S.M.-S., O.P., R. Ripp, J.-A.S., H.P.N.S., E.H.S., A.R.W., D.Z., G.M.L. and T.L. contributed phenotypes, genotypes and analyses for the AMD-EU-JHU study. BDES: R.P.I., B.E.K.K., R.K., K.E.L., C.E.M., T.A.S., B.J.T. and S.K.I. contributed phenotypes, genotypes and analyses for the BDES study. Blue Mountains Eye Study: X.S., P.M., T.Y.W. and J.J.W. contributed phenotypes, genotypes and analyses for BMES. BU/Utah: M.S., G.S.H., G.J., I.K.K., D.J.M., M.A.M., C.P., K.H.P., D.A.S., G.S., E.E.T., M.M.D. and L.A.F. contributed phenotypes, genotypes and analyses for the BU/Utah study. CCF/VAMC: S.A.H., P.J., G.J.T.P., N.S.P., G.M.S.-S., R.P.I. and S.K.I. contributed phenotypes, genotypes and analyses for the CCF/VAMC study. CEI: P.J.F. and M.L.K. contributed phenotypes, genotypes and analyses for the CEI study. Columbia: J.E.M., G.R.B., R.T.S. and R.A. contributed phenotypes, genotypes and analyses for the Columbia study. deCODE: A.G., G.T., H. Sigurdsson, H. Stefansson, K.S. and U.T. contributed phenotypes, genotypes and analyses for the deCODE study. Japan Age-Related Eye Diseases Study: S.A., T.I., Y. Kiyohara, Y.N., Y.O., A.T. and M.K. contributed phenotypes, genotypes and analyses for JAREDS. Melbourne: R.H.G., M.S.C., A.J.R. and P.N. Baird contributed phenotypes, genotypes and analyses for the Melbourne study. Miami/Vanderbilt: B.L.Y., A.A., W.H.C., J.L.K., A.C.N., S.G.S., W.K.S., M.A.P.-V. and J.L.H. contributed phenotypes, genotypes and analyses for the Miami/Vanderbilt study. MMAP/NEI: W.C., K.E.B., M. Brooks, A.J.B., C.-C.C., E.Y.C., R.C., A.O.E., J.S.F., N.G., J.R.H., A.O., M.I.O., R.R.P., E.R., D.E.S., N.T., A.S. and G.R.A. contributed phenotypes, genotypes and analyses for the MMAP/NEI study. Rotterdam: G.H.S.B., A.G.U., C.M.v.D., J.R.V. and C.C.W.K. contributed phenotypes, genotypes and analyses for the Rotterdam study. SAGE: T.A., C.-Y.C., B.K.C. and E.N.V. contributed phenotypes, genotypes and analyses for the SAGE study. Southern German AMD Study: L.G.F., C.G., C.H., C.N.K., P.L., T.M., G.R., H.-E.W., T.W.W., B.H.F.W. and I.M.H. contributed phenotypes, genotypes and analyses for the Southern German AMD Study. Tufts/Massachusetts General Hospital: Y.Y., S.R., K.A.C., M.J.D., E.E., J.F., J.P.A.I., R. Reynolds, L.S. and J.M.S. contributed phenotypes, genotypes and analyses for the Tufts/MGH study. UK Cambridge/Edinburgh: V.C., A.M.A., P.N. Bishop, D.G.C., B.D., S.P.H., J.C.K., A.T.M., H. Shahid, A.F.W. and J.R.W.Y. contributed phenotypes, genotypes and analyses for the UK Cambridge/Edinburgh study. University of Pittsburgh/UCLA: D.E.W., Y.P.C., M.C.O. and M.B.G. contributed phenotypes, genotypes and analyses for the University of Pittsburgh/UCLA study. UCSD: G. Hannum, H.A.F., G. Hughes, I.K., C.J.L., M.Z., L.Z. and K.Z. contributed phenotypes, genotypes and analyses for the USCD study. VRF: R.J.G., L.V., R.P.I. and S.K.I. contributed phenotypes, genotypes and analyses for the VRF study. Gene expression and RNA sequencing data: data were contributed and analyzed by M. Brooks, J.S.F., N.G., R.R.P. and A.S.

Corresponding authors

Correspondence to Jonathan L Haines, Lindsay A Farrer, Iris M Heid or Gonçalo R Abecasis.

Ethics declarations

Competing interests

A.A., G.R.A., K.E.B., V.C., Y.P.C., M.J.D., A.O.E., L.G.F., M.B.G., J.L.H., A.T.M., D.A.S., W.K.S., J.M.S., A.S., B.H.F.W., D.E.W. and J.R.W.Y. are coinventors or beneficiaries of patents related to genetic discoveries in AMD. J.L.H. and M.M.D. are shareholders in ArcticDX. S.G.S. is a consultant for Alimera, Bausch + Lomb, Eyetech and ThromboGenics and receives royalties from IC Labs. U.T., K.S., G.T. and H. Stefansson are affiliated and/or employed by deCODE Genetics and own stock and/or stock options in the company. H.P.N.S. is on advisory boards for Sanofi-Fovea and AMD Therapy Fund and on the safety monitoring board of StemCells Inc. P.M. is on advisory boards for Allergan, Bayer, Novartis, Pfizer and Solvay and has received travel, honorarium and research support from these companies; he has no stock, equity, contract of employment or named position on company boards.

Supplementary information

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Supplementary Figures 1–4, Supplementary Tables 1–11 and Supplemetnary Note (PDF 2644 kb)

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The AMD Gene Consortium. Seven new loci associated with age-related macular degeneration. Nat Genet 45, 433–439 (2013). https://doi.org/10.1038/ng.2578

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