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

التفاصيل البيبلوغرافية
العنوان: A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
المؤلفون: Fritsche LG; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA., Igl W; Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany., Bailey JN; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Grassmann F; Institute of Human Genetics, University of Regensburg, Regensburg, Germany., Sengupta S; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA., Bragg-Gresham JL; 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., Burdon KP; School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia., Hebbring SJ; Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA., Wen C; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Gorski M; Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany., Kim IK; Retina Service, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA., Cho D; Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Zack D; 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., Souied E; Hôpital Intercommunal de Créteil, Hôpital Henri Mondor, Université Paris Est Créteil, Créteil, France., Scholl HP; Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Ophthalmology, University of Bonn, Bonn, Germany., Bala E; Louis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, Ohio, USA., Lee KE; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA., Hunter DJ; Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.; Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts, USA., Sardell RJ; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA., Mitchell P; Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia., Merriam JE; Department of Ophthalmology, Columbia University, New York, New York, USA., Cipriani V; University College London Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital, London, UK., Hoffman JD; Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Schick T; Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany., Lechanteur YT; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands., Guymer RH; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia., Johnson MP; South Texas Diabetes and Obesity Institute, School of Medicine, University of Texas Rio Grande Valley, Brownsville, Texas, USA., Jiang Y; Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Stanton CM; Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Buitendijk GH; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands., Zhan X; 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., Kwong AM; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA., Boleda A; Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA., Brooks M; Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA., Gieser L; Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA., Ratnapriya R; Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA., Branham KE; Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, USA., Foerster JR; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA., Heckenlively JR; Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, USA., Othman MI; Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, USA., Vote BJ; School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia., Liang HH; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia., Souzeau E; Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia., McAllister IL; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia., Isaacs T; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia., Hall J; Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia., Lake S; Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia., Mackey DA; 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., Constable IJ; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia., Craig JE; Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia., Kitchner TE; Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA., Yang Z; 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., Su Z; Molecular Medicine Research Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China., Luo H; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Chen D; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Ouyang H; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Flagg K; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Lin D; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Mao G; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Ferreyra H; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Stark K; Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany., von Strachwitz CN; EyeCentre Southwest, Stuttgart, Germany., Wolf A; University Eye Clinic, Ludwig Maximilians University, Munich, Germany., Brandl C; 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., Rudolph G; University Eye Clinic, Ludwig Maximilians University, Munich, Germany., Olden M; Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany., Morrison MA; Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA., Morgan DJ; Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA., Schu M; 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., Ahn J; Department of Ophthalmology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Republic of Korea., Silvestri G; Centre for Experimental Medicine, Queen's University, Belfast, UK., Tsironi EE; Department of Ophthalmology, University of Thessaly, School of Medicine, Larissa, Greece., Park KH; Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, Republic of Korea., Farrer LA; 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., Orlin A; Department of Ophthalmology, Weill Cornell Medical College, New York, New York, USA., Brucker A; Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Li M; Department of Biostatistics and Epidemiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Curcio CA; Department of Ophthalmology, University of Alabama at Birmingham, Birmingham, Alabama, USA., Mohand-Saïd S; 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., Sahel JA; 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., Audo I; 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., Benchaboune M; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France., Cree AJ; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK., Rennie CA; University Hospital Southampton, Southampton, UK., Goverdhan SV; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK., Grunin M; Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel., Hagbi-Levi S; Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel., Campochiaro P; 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., Katsanis N; 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., Holz FG; Department of Ophthalmology, University of Bonn, Bonn, Germany., Blond F; INSERM, Paris, France.; Institut de la Vision, Department of Genetics, Paris, France.; Centre National de la Recherche Scientifique (CNRS), Paris, France., Blanché H; Centre d'Etude du Polymorphisme Humain (CEPH) Fondation Jean Dausset, Paris, France., Deleuze JF; 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., Igo RP Jr; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Truitt B; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Peachey NS; Louis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, Ohio, USA.; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA., Meuer SM; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA., Myers CE; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA., Moore EL; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA., Klein R; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA., Hauser MA; 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., Postel EA; Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA., Courtenay MD; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA., Schwartz SG; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida, USA., Kovach JL; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida, USA., Scott WK; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA., Liew G; Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia., Tan AG; Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia., Gopinath B; Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia., Merriam JC; Department of Ophthalmology, Columbia University, New York, New York, USA., Smith RT; Department of Ophthalmology, Columbia University, New York, New York, USA.; Department of Ophthalmology, New York University School of Medicine, New York, New York, USA., Khan JC; 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., Shahid H; 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., Moore AT; 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., McGrath JA; Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Laux R; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Brantley MA Jr; Department of Ophthalmology and Visual Sciences, Vanderbilt University, Nashville, Tennessee, USA., Agarwal A; Department of Ophthalmology and Visual Sciences, Vanderbilt University, Nashville, Tennessee, USA., Ersoy L; Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany., Caramoy A; Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany., Langmann T; Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany., Saksens NT; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands., de Jong EK; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands., Cain MS; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia., Richardson AJ; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia., Martin TM; Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA., Blangero J; South Texas Diabetes and Obesity Institute, School of Medicine, University of Texas Rio Grande Valley, Brownsville, Texas, USA., Weeks DE; 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., Dhillon B; School of Clinical Sciences, University of Edinburgh, Edinburgh, UK., van Duijn CM; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands., Doheny KF; Center for Inherited Disease Research (CIDR) Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Romm J; Center for Inherited Disease Research (CIDR) Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Klaver CC; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands., Hayward C; Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Gorin MB; 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., Klein ML; Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA., Baird PN; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia., den Hollander AI; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands., Fauser S; Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany., Yates JR; 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., Allikmets R; Department of Ophthalmology, Columbia University, New York, New York, USA.; Department of Pathology and Cell Biology, Columbia University, New York, New York, USA., Wang JJ; Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia., Schaumberg DA; 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., Klein BE; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA., Hagstrom SA; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA., Chowers I; Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel., Lotery AJ; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK., Léveillard T; INSERM, Paris, France.; Institut de la Vision, Department of Genetics, Paris, France.; Centre National de la Recherche Scientifique (CNRS), Paris, France., Zhang K; 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., Brilliant MH; Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA., Hewitt AW; 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., Swaroop A; Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA., Chew EY; Division of Epidemiology and Clinical Applications, Clinical Trials Branch, National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA., Pericak-Vance MA; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA., DeAngelis M; Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA., Stambolian D; Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Haines JL; 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., Iyengar SK; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Weber BH; Institute of Human Genetics, University of Regensburg, Regensburg, Germany., Abecasis GR; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA., Heid IM; Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
المصدر: Nature genetics [Nat Genet] 2016 Feb; Vol. 48 (2), pp. 134-43. Date of Electronic Publication: 2015 Dec 21.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: New York, NY : Nature Pub. Co., c1992-
مواضيع طبية MeSH: Genome-Wide Association Study*, Macular Degeneration/*genetics, Genetic Predisposition to Disease ; Humans ; Mutation
مستخلص: 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.
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معلومات مُعتمدة: K22 LM011938 United States LM NLM NIH HHS; R01 EY013435 United States EY NEI NIH HHS; P30 EY014801 United States EY NEI NIH HHS; UL1 TR000427 United States TR NCATS NIH HHS; T32 GM080178 United States GM NIGMS NIH HHS; P30 DK079626 United States DK NIDDK NIH HHS; R01 EY022310 United States EY NEI NIH HHS; P30 EY019007 United States EY NEI NIH HHS; F31 AG044089 United States AG NIA NIH HHS; 1X01HG006934-01 United States HG NHGRI NIH HHS; HHSN268201200008I United States HL NHLBI NIH HHS; T32 EY023194 United States EY NEI NIH HHS; U54 HG006542 United States HG NHGRI NIH HHS; T32 EY007157 United States EY NEI NIH HHS; U10 EY006594 United States EY NEI NIH HHS; R01 AG019085 United States AG NIA NIH HHS; R01 EY012118 United States EY NEI NIH HHS; HHSN268201200008C United States HL NHLBI NIH HHS; U01 HG006389 United States HG NHGRI NIH HHS; R01 EY021532 United States EY NEI NIH HHS; MC_PC_U127561128 United Kingdom MRC_ Medical Research Council; R01 EY023164 United States EY NEI NIH HHS; P30 EY001583 United States EY NEI NIH HHS; IK6 BX005233 United States BX BLRD VA
تواريخ الأحداث: Date Created: 20151223 Date Completed: 20160603 Latest Revision: 20220517
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC4745342
DOI: 10.1038/ng.3448
PMID: 26691988
قاعدة البيانات: MEDLINE
الوصف
تدمد:1546-1718
DOI:10.1038/ng.3448