Evidence map›Paper›PMID 26691988›Full record

ArticleNature genetics2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Lars G Fritsche, Wilmar Igl, Jessica N Cooke Bailey, Felix Grassmann, Sebanti Sengupta, Jennifer L Bragg-Gresham, Kathryn P Burdon, Scott J Hebbring, Cindy Wen, Mathias Gorski and 152 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 995 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
995citing papers in PubMed, 4 pooled it
88.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

995 citing papers in PubMed, 4 syntheses or guidelines pooled it, 1,590 citations in OpenAlex.

  1. How do genetic polymorphisms influence the efficacy of age-related macular degeneration treatments? A systematic review and meta-analysis.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026
    Pooled it
  2. Pooled it
  3. Guideline
  4. Pooled it
  5. Role of Chromatin-Associated RNAs in Eye Physiology and Pathology.Methods in molecular biology (Clifton, N.J.) · 2027
    Review
  6. Leukocytes and age-related macular degeneration.European journal of epidemiology · 2026
    Article
  7. Article
  8. Genetic evidence and cross-species functional characterization implicateProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
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  10. Review
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  17. An Integrated Multi-omics Single Cell Atlas of the Human RPE and Choroid.bioRxiv : the preprint server for biology · 2026
    Article
  18. Article
  19. Article
  20. Article

935 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

162 authors at 20 institutions in 10 countries.

Lars G FritscheCenter for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.ORCID http://orcid.org/0000-0002-2110-1690
Wilmar IglDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Jessica N Cooke BaileyDepartment of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.ORCID http://orcid.org/0000-0002-4001-8702
Felix GrassmannInstitute of Human Genetics, University of Regensburg, Regensburg, Germany.
Sebanti SenguptaCenter for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
Jennifer L Bragg-GreshamCenter for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
Kathryn P BurdonSchool of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia.
Scott J HebbringCenter for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
Cindy WenDepartment of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
Mathias GorskiDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Ivana K KimRetina Service, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.
David ChoDepartment of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Donald ZackDepartment of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Eric SouiedHôpital Intercommunal de Créteil, Hôpital Henri Mondor, Université Paris Est Créteil, Créteil, France.
Hendrik P N SchollDepartment of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Elisa BalaLouis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, Ohio, USA.
Kristine E LeeDepartment of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.
David J HunterDepartment of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
Rebecca J SardellJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
Paul MitchellCentre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
Joanna E MerriamDepartment of Ophthalmology, Columbia University, New York, New York, USA.
Valentina CiprianiUniversity College London Institute of Ophthalmology, University College London, London, UK.
Joshua D HoffmanCenter for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Tina SchickDepartment of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
Yara T E LechanteurDepartment of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
Robyn H GuymerCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
Matthew P JohnsonSouth Texas Diabetes and Obesity Institute, School of Medicine, University of Texas Rio Grande Valley, Brownsville, Texas, USA.
Yingda JiangDepartment of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Chloe M StantonMedical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Gabriëlle H S BuitendijkDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Xiaowei ZhanCenter for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
Alan M KwongCenter for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
Alexis BoledaNeurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
Matthew BrooksNeurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
Linn GieserNeurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
Rinki RatnapriyaNeurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
Kari E BranhamDepartment of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, USA.
Johanna R FoersterCenter for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
John R HeckenlivelyDepartment of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, USA.
Mohammad I OthmanDepartment of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, USA.
Brendan J VoteSchool of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia.
Helena Hai LiangCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0002-4270-8707
Emmanuelle SouzeauDepartment of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia.
Ian L McAllisterCentre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
Timothy IsaacsCentre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
Janette HallDepartment of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia.
Stewart LakeDepartment of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia.
David A MackeySchool of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia.
Ian J ConstableCentre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
Jamie E CraigDepartment of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia.
Terrie E KitchnerCenter for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
Zhenglin YangSichuan 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.
Zhiguang SuMolecular Medicine Research Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.
Hongrong LuoDepartment of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
Daniel ChenDepartment of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
Hong OuyangDepartment of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
Ken FlaggDepartment of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
Danni LinDepartment of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
Guanping MaoDepartment of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
Henry FerreyraDepartment of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
Klaus StarkDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Claudia N von StrachwitzEyeCentre Southwest, Stuttgart, Germany.
Armin WolfUniversity Eye Clinic, Ludwig Maximilians University, Munich, Germany.
Caroline BrandlDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Guenther RudolphUniversity Eye Clinic, Ludwig Maximilians University, Munich, Germany.
Matthias OldenDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Margaux A MorrisonDepartment of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA.
Denise J MorganDepartment of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA.
Matthew SchuDepartment of Medicine (Biomedical Genetics), Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.
Jeeyun AhnDepartment of Ophthalmology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Republic of Korea.
Giuliana SilvestriCentre for Experimental Medicine, Queen's University, Belfast, UK.
Evangelia E TsironiDepartment of Ophthalmology, University of Thessaly, School of Medicine, Larissa, Greece.
Kyu Hyung ParkDepartment of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.
Lindsay A FarrerDepartment of Medicine (Biomedical Genetics), Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.
Anton OrlinDepartment of Ophthalmology, Weill Cornell Medical College, New York, New York, USA.
Alexander BruckerScheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Mingyao LiDepartment of Biostatistics and Epidemiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Christine A CurcioDepartment of Ophthalmology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Saddek Mohand-SaïdINSERM, Paris, France.
José-Alain SahelUniversity College London Institute of Ophthalmology, University College London, London, UK.
Isabelle AudoINSERM, Paris, France.
Mustapha BenchabouneCentre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France.
Angela J CreeClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Christina A RennieUniversity Hospital Southampton, Southampton, UK.
Srinivas V GoverdhanClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Michelle GruninDepartment of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Shira Hagbi-LeviDepartment of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Peter CampochiaroDepartment of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Nicholas KatsanisCenter for Human Disease Modeling, Duke University, Durham, North Carolina, USA.
Frank G HolzDepartment of Ophthalmology, University of Bonn, Bonn, Germany.
Frédéric BlondINSERM, Paris, France.
Hélène BlanchéCentre d'Etude du Polymorphisme Humain (CEPH) Fondation Jean Dausset, Paris, France.ORCID http://orcid.org/0000-0003-2115-575X
Jean-François DeleuzeCentre d'Etude du Polymorphisme Humain (CEPH) Fondation Jean Dausset, Paris, France.
Robert P IgoDepartment of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Barbara TruittDepartment of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Neal S PeacheyLouis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, Ohio, USA.
Stacy M MeuerDepartment of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.
Chelsea E MyersDepartment of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.
Emily L MooreDepartment of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.
Ronald KleinDepartment of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.ORCID http://orcid.org/0000-0002-4428-6237
Michael A HauserDepartment of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA.
Eric A PostelDepartment of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA.
Monique D CourtenayJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
Stephen G SchwartzBascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida, USA.ORCID http://orcid.org/0000-0002-1441-9473
Jaclyn L KovachBascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida, USA.
William K ScottJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
Gerald LiewCentre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
Ava G TanCentre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
Bamini GopinathCentre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
John C MerriamDepartment of Ophthalmology, Columbia University, New York, New York, USA.
R Theodore SmithDepartment of Ophthalmology, Columbia University, New York, New York, USA.
Jane C KhanCentre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
Humma ShahidDepartment of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
Anthony T MooreUniversity College London Institute of Ophthalmology, University College London, London, UK.
J Allie McGrathCenter for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Reneé LauxDepartment of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Milam A BrantleyDepartment of Ophthalmology and Visual Sciences, Vanderbilt University, Nashville, Tennessee, USA.
Anita AgarwalDepartment of Ophthalmology and Visual Sciences, Vanderbilt University, Nashville, Tennessee, USA.
Lebriz ErsoyDepartment of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
Albert CaramoyDepartment of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
Thomas LangmannDepartment of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
Nicole T M SaksensDepartment of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
Eiko K de JongDepartment of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
Carel B HoyngDepartment of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
Melinda S CainCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
Andrea J RichardsonCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
Tammy M MartinCasey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA.
John BlangeroSouth Texas Diabetes and Obesity Institute, School of Medicine, University of Texas Rio Grande Valley, Brownsville, Texas, USA.
Daniel E WeeksDepartment of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Bal DhillonSchool of Clinical Sciences, University of Edinburgh, Edinburgh, UK.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Kimberly F DohenyCenter for Inherited Disease Research (CIDR) Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Jane RommCenter for Inherited Disease Research (CIDR) Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Caroline C W KlaverDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Caroline HaywardMedical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Michael B GorinDepartment of Ophthalmology, David Geffen School of Medicine, Stein Eye Institute, University of California, Los Angeles, Los Angeles, California, USA.
Michael L KleinCasey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA.
Paul N BairdCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
Anneke I den HollanderDepartment of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
Sascha FauserDepartment of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
John R W YatesUniversity College London Institute of Ophthalmology, University College London, London, UK.
Rando AllikmetsDepartment of Ophthalmology, Columbia University, New York, New York, USA.
Jie Jin WangCentre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
Debra A SchaumbergDepartment of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
Barbara E K KleinDepartment of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.
Stephanie A HagstromCole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Itay ChowersDepartment of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Andrew J LoteryClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Thierry LéveillardINSERM, Paris, France.
Kang ZhangDepartment of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
Murray H BrilliantCenter for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
Alex W HewittSchool of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia.
Anand SwaroopNeurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
Emily Y ChewDivision of Epidemiology and Clinical Applications, Clinical Trials Branch, National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
Margaret A Pericak-VanceJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
Margaret DeAngelisDepartment of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA.
Dwight StambolianDepartment of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Jonathan L HainesDepartment of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Sudha K IyengarDepartment of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Bernhard H F WeberInstitute of Human Genetics, University of Regensburg, Regensburg, Germany.
Gonçalo R AbecasisCenter for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
Iris M HeidDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
University of Michigan · USUniversity of California San Diego · USUniversity of Regensburg · DELions Eye Institute · AUNational Institutes of Health · USUniversity of Miami · USUniversity of Wisconsin–Madison · USUniversity School · USCentre National de la Recherche Scientifique · FRRadboud University Nijmegen · NLThe University of Melbourne · AUThe University of Sydney · AUUniversity Hospital Cologne · DEFlinders University · AUColumbia University · USErasmus MC · NLHadassah Medical Center · ILJohns Hopkins University · USMarshfield Clinic · USUniversity of Pennsylvania · US

Funding

Mechanisms, modeling and therapies of retinal and macular neurodegenerationZIAEY000546 · NEI · NATIONAL EYE INSTITUTE · PI SWAROOP, ANAND · 2015 to 2025
$36.3M
Institutional Clinical and Translational Science AwardUL1TR000427 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$32.2M
Scientific TransparencyP30EY001583 · NEI · UNIVERSITY OF PENNSYLVANIA · PI Qi N Cui · 1985 to 2026
$19.5M
University of Alabama at Birmingham's Diabetes Research CenterP30DK079626 · NIDDK · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI Kirk Michael Habegger · 2013 to 2026
$19.5M
THE EPIDEMIOLOGY OF AGE-RELATED OCULAR DISEASEU10EY006594 · NEI · UNIVERSITY OF WISCONSIN-MADISON · PI KLEIN, BARBARA EDEN · 1987 to 2018
$17.3M
Baylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6M
Instrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9M
Unifying Genetics Epidemiology of Macular DegenerationR01EY012118 · NEI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI AGARWAL, ANITA, HAINES, JONATHAN L · 2006 to 2015
$12.2M
Shared Equipment ModuleP30EY014801 · NEI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Victor L Perez · 2004 to 2026
$12.2M
Genetic Studies of Dementia in the AmishR01AG019085 · NIA · VANDERBILT UNIVERSITY · PI HAINES, JONATHAN L · 2001 to 2011
$11.0M
Genetic Variation in Age-Related Macular DegenerationR01EY013435 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2001 to 2014
$7.7M
Genetic Epidemiology of Age-Related Macular Degeneration in the Older Order AmishR01EY023164 · NEI · UNIVERSITY OF PENNSYLVANIA · PI PERICAK-VANCE, MARGARET A., STAMBOLIAN, DWIGHT EDWARD · 2013 to 2017
$6.2M
BLRD VA IK6 BX005233Medical Research Council MC_PC_U127561128NCATS NIH HHS UL1 TR000427NEI NIH HHS P30 EY001583NEI NIH HHS P30 EY014801NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY012118NEI NIH HHS R01 EY013435NEI NIH HHS R01 EY021532NEI NIH HHS R01 EY022310NEI NIH HHS R01 EY023164NEI NIH HHS T32 EY007157NEI NIH HHS T32 EY023194NEI NIH HHS U10 EY006594NHGRI NIH HHS 1X01HG006934-01NHGRI NIH HHS U01 HG006389NHGRI NIH HHS U54 HG006542NHLBI NIH HHS HHSN268201200008CNHLBI NIH HHS HHSN268201200008INIA NIH HHS F31 AG044089NIA NIH HHS R01 AG019085NIDDK NIH HHS P30 DK079626NIGMS NIH HHS T32 GM080178NLM NIH HHS K22 LM011938
6 · The paper itself

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.

Indexed as

Genome-Wide Association StudyGenetic Predisposition to DiseaseHumansMacular DegenerationMutation

Identifiers

PMID26691988
PMCPMC4745342
OpenAlexW2233221674

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.