换一批
换一批A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
第一作者：
Lars G,Fritsche
第一单位：
Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
作者：
Lars G,Fritsche [1]
;
Wilmar,Igl [2]
;
Jessica N Cooke,Bailey [3]
;
Felix,Grassmann [4]
;
Sebanti,Sengupta [1]
;
Jennifer L,Bragg-Gresham [5]
;
Kathryn P,Burdon [6]
;
Scott J,Hebbring [7]
;
Cindy,Wen [8]
;
Mathias,Gorski [2]
;
Ivana K,Kim [9]
;
David,Cho [10]
;
Donald,Zack [11]
;
Eric,Souied [12]
;
Hendrik P N,Scholl [13]
;
Elisa,Bala [14]
;
Kristine E,Lee [15]
;
David J,Hunter [16]
;
Rebecca J,Sardell [17]
;
Paul,Mitchell [18]
;
Joanna E,Merriam [19]
;
Valentina,Cipriani [20]
;
Joshua D,Hoffman [21]
;
Tina,Schick [22]
;
Yara T E,Lechanteur [23]
;
Robyn H,Guymer [24]
;
Matthew P,Johnson [25]
;
Yingda,Jiang [26]
;
Chloe M,Stanton [27]
;
Gabriëlle H S,Buitendijk [28]
;
Xiaowei,Zhan [29]
;
Alan M,Kwong [1]
;
Alexis,Boleda [30]
;
Matthew,Brooks [30]
;
Linn,Gieser [30]
;
Rinki,Ratnapriya [30]
;
Kari E,Branham [31]
;
Johanna R,Foerster [1]
;
John R,Heckenlively [31]
;
Mohammad I,Othman [31]
;
Brendan J,Vote [6]
;
Helena Hai,Liang [24]
;
Emmanuelle,Souzeau [32]
;
Ian L,McAllister [33]
;
Timothy,Isaacs [33]
;
Janette,Hall [32]
;
Stewart,Lake [32]
;
David A,Mackey [34]
;
Ian J,Constable [33]
;
Jamie E,Craig [32]
;
Terrie E,Kitchner [7]
;
Zhenglin,Yang [35]
;
Zhiguang,Su [36]
;
Hongrong,Luo [8]
;
Daniel,Chen [8]
;
Hong,Ouyang [8]
;
Ken,Flagg [8]
;
Danni,Lin [8]
;
Guanping,Mao [8]
;
Henry,Ferreyra [8]
;
Klaus,Stark [2]
;
Claudia N,von Strachwitz [37]
;
Armin,Wolf [38]
;
Caroline,Brandl [39]
;
Guenther,Rudolph [38]
;
Matthias,Olden [2]
;
Margaux A,Morrison [40]
;
Denise J,Morgan [40]
;
Matthew,Schu [41]
;
Jeeyun,Ahn [42]
;
Giuliana,Silvestri [43]
;
Evangelia E,Tsironi [44]
;
Kyu Hyung,Park [45]
;
Lindsay A,Farrer [41]
;
Anton,Orlin [46]
;
Alexander,Brucker [47]
;
Mingyao,Li [48]
;
Christine A,Curcio [49]
;
Saddek,Mohand-Saïd [50]
;
José-Alain,Sahel [51]
;
Isabelle,Audo [52]
;
Mustapha,Benchaboune [53]
;
Angela J,Cree [54]
;
Christina A,Rennie [55]
;
Srinivas V,Goverdhan [54]
;
Michelle,Grunin [56]
;
Shira,Hagbi-Levi [56]
;
Peter,Campochiaro [57]
;
Nicholas,Katsanis [58]
;
Frank G,Holz [59]
;
Frédéric,Blond [60]
;
Hélène,Blanché [61]
;
Jean-François,Deleuze [62]
;
Robert P,Igo [3]
;
Barbara,Truitt [3]
;
Neal S,Peachey [63]
;
Stacy M,Meuer [15]
;
Chelsea E,Myers [15]
;
Emily L,Moore [15]
;
Ronald,Klein [15]
;
Michael A,Hauser [64]
;
Eric A,Postel [65]
;
Monique D,Courtenay [17]
;
Stephen G,Schwartz [66]
;
Jaclyn L,Kovach [66]
;
William K,Scott [17]
;
Gerald,Liew [18]
;
Ava G,Tan [18]
;
Bamini,Gopinath [18]
;
John C,Merriam [19]
;
R Theodore,Smith [67]
;
Jane C,Khan [68]
;
Humma,Shahid [69]
;
Anthony T,Moore [70]
;
J Allie,McGrath [21]
;
Reneé,Laux [3]
;
Milam A,Brantley [71]
;
Anita,Agarwal [71]
;
Lebriz,Ersoy [22]
;
Albert,Caramoy [22]
;
Thomas,Langmann [22]
;
Nicole T M,Saksens [23]
;
Eiko K,de Jong [23]
;
Carel B,Hoyng [23]
;
Melinda S,Cain [24]
;
Andrea J,Richardson [24]
;
Tammy M,Martin [72]
;
John,Blangero [25]
;
Daniel E,Weeks [73]
;
Bal,Dhillon [74]
;
Cornelia M,van Duijn [75]
;
Kimberly F,Doheny [76]
;
Jane,Romm [76]
;
Caroline C W,Klaver [28]
;
Caroline,Hayward [27]
;
Michael B,Gorin [77]
;
Michael L,Klein [72]
;
Paul N,Baird [24]
;
Anneke I,den Hollander [78]
;
Sascha,Fauser [22]
;
John R W,Yates [79]
;
Rando,Allikmets [80]
;
Jie Jin,Wang [18]
;
Debra A,Schaumberg [81]
;
Barbara E K,Klein [15]
;
Stephanie A,Hagstrom [82]
;
Itay,Chowers [56]
;
Andrew J,Lotery [54]
;
Thierry,Léveillard [60]
;
Kang,Zhang [83]
;
Murray H,Brilliant [7]
;
Alex W,Hewitt [34]
;
Anand,Swaroop [30]
;
Emily Y,Chew [84]
;
Margaret A,Pericak-Vance [17]
;
Margaret,DeAngelis [40]
;
Dwight,Stambolian [10]
;
Jonathan L,Haines [85]
;
Sudha K,Iyengar [3]
;
Bernhard H F,Weber [4]
;
Gonçalo R,Abecasis [1]
;
Iris M,Heid [2]
作者单位：
Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
[1]
Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
[2]
Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
[3]
Institute of Human Genetics, University of Regensburg, Regensburg, Germany.
[4]
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.
[5]
School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia.
[6]
Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
[7]
Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.
[8]
Retina Service, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.
[9]
Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
[10]
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.
[11]
Hôpital Intercommunal de Créteil, Hôpital Henri Mondor, Université Paris Est Créteil, Créteil, France.
[12]
Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.;Department of Ophthalmology, University of Bonn, Bonn, Germany.
[13]
Louis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, Ohio, USA.
[14]
Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.
[15]
Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.;Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts, USA.
[16]
John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
[17]
Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
[18]
Department of Ophthalmology, Columbia University, New York, New York, USA.
[19]
University College London Institute of Ophthalmology, University College London, London, UK.;Moorfields Eye Hospital, London, UK.
[20]
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
[21]
Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
[22]
Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
[23]
Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
[24]
South Texas Diabetes and Obesity Institute, School of Medicine, University of Texas Rio Grande Valley, Brownsville, Texas, USA.
[25]
Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
[26]
Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
[27]
Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.;Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
[28]
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.
[29]
Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
[30]
Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, USA.
[31]
Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia.
[32]
Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
[33]
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.
[34]
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.
[35]
Molecular Medicine Research Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.
[36]
EyeCentre Southwest, Stuttgart, Germany.
[37]
University Eye Clinic, Ludwig Maximilians University, Munich, Germany.
[38]
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.
[39]
Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA.
[40]
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.
[41]
Department of Ophthalmology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Republic of Korea.
[42]
Centre for Experimental Medicine, Queen's University, Belfast, UK.
[43]
Department of Ophthalmology, University of Thessaly, School of Medicine, Larissa, Greece.
[44]
Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.
[45]
Department of Ophthalmology, Weill Cornell Medical College, New York, New York, USA.
[46]
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
[47]
Department of Biostatistics and Epidemiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
[48]
Department of Ophthalmology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
[49]
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.
[50]
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.
[51]
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.
[52]
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France.
[53]
Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
[54]
University Hospital Southampton, Southampton, UK.
[55]
Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
[56]
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.
[57]
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.
[58]
Department of Ophthalmology, University of Bonn, Bonn, Germany.
[59]
INSERM, Paris, France.;Institut de la Vision, Department of Genetics, Paris, France.;Centre National de la Recherche Scientifique (CNRS), Paris, France.
[60]
Centre d'Etude du Polymorphisme Humain (CEPH) Fondation Jean Dausset, Paris, France.
[61]
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.
[62]
Louis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, Ohio, USA.;Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
[63]
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.
[64]
Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA.
[65]
Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida, USA.
[66]
Department of Ophthalmology, Columbia University, New York, New York, USA.;Department of Ophthalmology, New York University School of Medicine, New York, New York, USA.
[67]
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.
[68]
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.
[69]
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.
[70]
Department of Ophthalmology and Visual Sciences, Vanderbilt University, Nashville, Tennessee, USA.
[71]
Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA.
[72]
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.
[73]
School of Clinical Sciences, University of Edinburgh, Edinburgh, UK.
[74]
Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
[75]
Center for Inherited Disease Research (CIDR) Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
[76]
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.
[77]
Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.;Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
[78]
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.
[79]
Department of Ophthalmology, Columbia University, New York, New York, USA.;Department of Pathology and Cell Biology, Columbia University, New York, New York, USA.
[80]
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.
[81]
Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
[82]
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.
[83]
Division of Epidemiology and Clinical Applications, Clinical Trials Branch, National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA.
[84]
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.
[85]
主题词
疾病遗传易感性(Genetic Predisposition to Disease);全基因组关联研究(Genome-Wide Association Study);人类(Humans);黄斑变性(Macular Degeneration);突变(Mutation)
DOI
10.1038/ng.3448
PMID
26691988
发布时间
2024-01-04
- 浏览2
Nature genetics
Nature genetics
134-43页
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