Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-05-29

AUTHORS

Tin Aung, Mineo Ozaki, Mei Chin Lee, Ursula Schlötzer-Schrehardt, Gudmar Thorleifsson, Takanori Mizoguchi, Robert P Igo, Aravind Haripriya, Susan E Williams, Yury S Astakhov, Andrew C Orr, Kathryn P Burdon, Satoko Nakano, Kazuhiko Mori, Khaled Abu-Amero, Michael Hauser, Zheng Li, Gopalakrishnan Prakadeeswari, Jessica N Cooke Bailey, Alina Popa Cherecheanu, Jae H Kang, Sarah Nelson, Ken Hayashi, Shin-ichi Manabe, Shigeyasu Kazama, Tomasz Zarnowski, Kenji Inoue, Murat Irkec, Miguel Coca-Prados, Kazuhisa Sugiyama, Irma Järvelä, Patricio Schlottmann, S Fabian Lerner, Hasnaa Lamari, Yildirim Nilgün, Mukharram Bikbov, Ki Ho Park, Soon Cheol Cha, Kenji Yamashiro, Juan C Zenteno, Jost B Jonas, Rajesh S Kumar, Shamira A Perera, Anita S Y Chan, Nino Kobakhidze, Ronnie George, Lingam Vijaya, Tan Do, Deepak P Edward, Lourdes de Juan Marcos, Mohammad Pakravan, Sasan Moghimi, Ryuichi Ideta, Daniella Bach-Holm, Per Kappelgaard, Barbara Wirostko, Samuel Thomas, Daniel Gaston, Karen Bedard, Wenda L Greer, Zhenglin Yang, Xueyi Chen, Lulin Huang, Jinghong Sang, Hongyan Jia, Liyun Jia, Chunyan Qiao, Hui Zhang, Xuyang Liu, Bowen Zhao, Ya-Xing Wang, Liang Xu, Stéphanie Leruez, Pascal Reynier, George Chichua, Sergo Tabagari, Steffen Uebe, Matthias Zenkel, Daniel Berner, Georg Mossböck, Nicole Weisschuh, Ursula Hoja, Ulrich-Christoph Welge-Luessen, Christian Mardin, Panayiota Founti, Anthi Chatzikyriakidou, Theofanis Pappas, Eleftherios Anastasopoulos, Alexandros Lambropoulos, Arkasubhra Ghosh, Rohit Shetty, Natalia Porporato, Vijayan Saravanan, Rengaraj Venkatesh, Chandrashekaran Shivkumar, Narendran Kalpana, Sripriya Sarangapani, Mozhgan R Kanavi, Afsaneh Naderi Beni, Shahin Yazdani, Alireza lashay, Homa Naderifar, Nassim Khatibi, Antonio Fea, Carlo Lavia, Laura Dallorto, Teresa Rolle, Paolo Frezzotti, Daniela Paoli, Erika Salvi, Paolo Manunta, Yosai Mori, Kazunori Miyata, Tomomi Higashide, Etsuo Chihara, Satoshi Ishiko, Akitoshi Yoshida, Masahide Yanagi, Yoshiaki Kiuchi, Tsutomu Ohashi, Toshiya Sakurai, Takako Sugimoto, Hideki Chuman, Makoto Aihara, Masaru Inatani, Masahiro Miyake, Norimoto Gotoh, Fumihiko Matsuda, Nagahisa Yoshimura, Yoko Ikeda, Morio Ueno, Chie Sotozono, Jin Wook Jeoung, Min Sagong, Kyu Hyung Park, Jeeyun Ahn, Marisa Cruz-Aguilar, Sidi M Ezzouhairi, Abderrahman Rafei, Yaan Fun Chong, Xiao Yu Ng, Shuang Ru Goh, Yueming Chen, Victor H K Yong, Muhammad Imran Khan, Olusola O Olawoye, Adeyinka O Ashaye, Idakwo Ugbede, Adeola Onakoya, Nkiru Kizor-Akaraiwe, Chaiwat Teekhasaenee, Yanin Suwan, Wasu Supakontanasan, Suhanya Okeke, Nkechi J Uche, Ifeoma Asimadu, Humaira Ayub, Farah Akhtar, Ewa Kosior-Jarecka, Urszula Lukasik, Ignacio Lischinsky, Vania Castro, Rodolfo Perez Grossmann, Gordana Sunaric Megevand, Sylvain Roy, Edward Dervan, Eoin Silke, Aparna Rao, Priti Sahay, Pablo Fornero, Osvaldo Cuello, Delia Sivori, Tamara Zompa, Richard A Mills, Emmanuelle Souzeau, Paul Mitchell, Jie Jin Wang, Alex W Hewitt, Michael Coote, Jonathan G Crowston, Sergei Y Astakhov, Eugeny L Akopov, Anton Emelyanov, Vera Vysochinskaya, Gyulli Kazakbaeva, Rinat Fayzrakhmanov, Saleh A Al-Obeidan, Ohoud Owaidhah, Leyla Ali Aljasim, Balram Chowbay, Jia Nee Foo, Raphael Q Soh, Kar Seng Sim, Zhicheng Xie, Augustine W O Cheong, Shi Qi Mok, Hui Meng Soo, Xiao Yin Chen, Su Qin Peh, Khai Koon Heng, Rahat Husain, Su-Ling Ho, Axel M Hillmer, Ching-Yu Cheng, Francisco A Escudero-Domínguez, Rogelio González-Sarmiento, Frederico Martinon-Torres, Antonio Salas, Kessara Pathanapitoon, Linda Hansapinyo, Boonsong Wanichwecharugruang, Naris Kitnarong, Anavaj Sakuntabhai, Hip X Nguyn, Giang T T Nguyn, Trình V Nguyn, Werner Zenz, Alexander Binder, Daniela S Klobassa, Martin L Hibberd, Sonia Davila, Stefan Herms, Markus M Nöthen, Susanne Moebus, Robyn M Rautenbach, Ari Ziskind, Trevor R Carmichael, Michele Ramsay, Lydia Álvarez, Montserrat García, Héctor González-Iglesias, Pedro P Rodríguez-Calvo, Luis Fernández-Vega Cueto, Çilingir Oguz, Nevbahar Tamcelik, Eray Atalay, Bilge Batu, Dilek Aktas, Burcu Kasım, M Roy Wilson, Anne L Coleman, Yutao Liu, Pratap Challa, Leon Herndon, Rachel W Kuchtey, John Kuchtey, Karen Curtin, Craig J Chaya, Alan Crandall, Linda M Zangwill, Tien Yin Wong, Masakazu Nakano, Shigeru Kinoshita, Anneke I den Hollander, Eija Vesti, John H Fingert, Richard K Lee, Arthur J Sit, Bradford J Shingleton, Ningli Wang, Daniele Cusi, Raheel Qamar, Peter Kraft, Margaret A Pericak-Vance, Soumya Raychaudhuri, Steffen Heegaard, Tero Kivelä, André Reis, Friedrich E Kruse, Robert N Weinreb, Louis R Pasquale, Jonathan L Haines, Unnur Thorsteinsdottir, Fridbert Jonasson, R Rand Allingham, Dan Milea, Robert Ritch, Toshiaki Kubota, Kei Tashiro, Eranga N Vithana, Shazia Micheal, Fotis Topouzis, Jamie E Craig, Michael Dubina, Periasamy Sundaresan, Kari Stefansson, Janey L Wiggs, Francesca Pasutto, Chiea Chuen Khor

ABSTRACT

Chiea Chuen Khor, Tin Aung, Francesca Pasutto, Janey Wiggs and colleagues report a global genome-wide association study of exfoliation syndrome and a fine-mapping analysis of a previously identified disease-associated locus, LOXL1. They identify a rare protective variant in LOXL1 exclusive to the Japanese population and five new common variant susceptibility loci. More... »

PAGES

993-1004

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  • Journal

    TITLE

    Nature Genetics

    ISSUE

    7

    VOLUME

    49

    Author Affiliations

  • Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
  • Department of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan
  • Academic Clinical Program for Ophthalmology and Visual Sciences, Office of Clinical and Academic Faculty Affairs, Duke–NUS Graduate Medical School, Singapore
  • Department of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
  • deCODE Genetics, Reykjavik, Iceland
  • Mizoguchi Eye Hospital, Sasebo, Japan
  • Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio, USA
  • Aravind Eye Hospital, Madurai, India
  • Division of Ophthalmology, University of the Witwatersrand, Johannesburg, South Africa
  • Department of Ophthalmology, Pavlov First Saint Petersburg State Medical University, St. Petersburg, Russia
  • Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada
  • Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia
  • Department of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan
  • Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan
  • Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, Florida, USA
  • Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA
  • Genome Institute of Singapore, Singapore
  • Department of Genetics, Aravind Medical Research Foundation, Madurai, India
  • Department of Ophthalmology, University Emergency Hospital, Bucharest, Romania
  • Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA
  • Department of Biostatistics, University of Washington, Seattle, Washington, USA
  • Hayashi Eye Hospital, Fukuoka, Japan
  • Shinjo Eye Clinic, Miyazaki, Japan
  • Department of Diagnostics and Microsurgery of Glaucoma, Medical University, Lublin, Poland
  • Inoue Eye Hospital, Tokyo, Japan
  • Department of Ophthalmology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
  • Department of Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, Connecticut, USA
  • Department of Ophthalmology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan
  • Department of Medical Genetics, University of Helsinki, Helsinki, Finland
  • Organización Médica de Investigación, Buenos Aires, Argentina
  • Fundación para el Estudio del Glaucoma, Buenos Aires, Argentina
  • Clinique Spécialisée en Ophtalmologie Mohammedia, Mohammedia, Morocco
  • Department of Ophthalmology, Eskisehir Osmangazi University, Meselik, Eskisehir, Turkey
  • Ufa Eye Research Institute, Ufa, Russia
  • Department of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea
  • Department of Ophthalmology, Yeungnam University College of Medicine, Daegu, Republic of Korea
  • Department of Ophthalmology, Otsu Red Cross Hospital, Otsu, Japan
  • Biochemistry Department, Faculty of Medicine, UNAM, Mexico City, Mexico
  • Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China
  • Narayana Nethralaya Eye Hospital, Bangalore, India
  • Singapore National Eye Center, Singapore
  • Chichua Medical Center Mzera, LLC, Tbilisi, Georgia
  • Jadhavbhai Nathamal Singhvi Department of Glaucoma, Medical Research Foundation, Chennai, India
  • Vietnam National Institute of Ophthalmology, Hanoi, Viet Nam
  • Department of Ophthalmology and Visual Sciences, Illinois Eye and Ear Infirmary, College of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA
  • Institute for Biomedical Research of Salamanca (IBSAL), Salamanca, Spain
  • Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  • Farabi Eye Hospital, Tehran University Eye Research Center, Tehran University of Medical Sciences, Tehran, Iran
  • Ideta Eye Hospital, Kumamoto City, Japan
  • Eye Clinic, Rigshospitalet–Glostrup, Glostrup, Denmark
  • Department of Ophthalmology, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah, USA
  • School of Medicine, University of Electronic Science and Technology of China, Chengdu, China
  • Department of Ophthalmology, First Affiliated Hospital of Xinjiang Medical University, Urumchi, China
  • Sichuan Translational Research Hospital, Chinese Academy of Sciences, Chengdu, China
  • Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China
  • Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China
  • Département d'Ophtalmologie, Centre Hospitalier Universitaire, Angers, France
  • Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France
  • David Tvildiani Medical University, Tbilisi, Georgia
  • Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
  • Department of Ophthalmology, Medical University Graz, Graz, Austria
  • Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany
  • Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece
  • Laboratory of General Biology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece
  • GROW Research Laboratory, Narayana Nethralaya Foundation, Bangalore, India
  • Santa Lucia Eye Hospital from Buenos Aires, Buenos Aires, Argentina
  • Aravind Eye Hospital, Pondicherry, India
  • Aravind Eye Hospital, Tirunelveli, India
  • Aravind Eye Hospital, Coimbatore, India
  • Vision Research Foundation, Chennai, India
  • Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  • Dipartimento di Scienze Chirurgiche, Università di Torino, Turin, Italy
  • Department of Medicine, Ophthalmology Unit, Surgery and Neuroscience, University of Siena, Siena, Italy
  • Department of Ophthalmology, Monfalcone Hospital, Gorizia, Italy
  • Department of Health Sciences, University of Milan, Milan, Italy
  • Department of Nephrology, University Vita-Salute San Raffaele, Milan, Italy
  • Miyata Eye Hospital, Miyazaki, Japan
  • Sensho-kai Eye Institute, Kyoto, Japan
  • Department of Medicine and Engineering Combined Research Institute, Asahikawa Medical University, Asahikawa, Japan
  • Department of Ophthalmology, Asahikawa Medical University, Asahikawa, Japan
  • Department of Ophthalmology and Visual Sciences, Hiroshima University, Hiroshima, Japan
  • Ohashi Eye Center, Sapporo, Japan
  • Tane Memorial Eye Hospital, Osaka, Japan
  • Department of Ophthalmology, University of Tokyo, Tokyo, Japan
  • Department of Ophthalmology, Faculty of Medical Science, University of Fukui, Fukui, Japan
  • Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan
  • Center for Genomic Medicine, INSERM U852, Kyoto University Graduate School of Medicine, Kyoto, Japan
  • Tazuke Kofukai Foundation, Medical Research Institute, Kitano Hospital, Osaka, Japan
  • Department of Ophthalmology, Seoul National University Bundang Hospital, Gyeonggi, Republic of Korea
  • Department of Ophthalmology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Republic of Korea
  • Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico
  • Laboratoires RAFEI, Mohammedia, Morocco
  • Singapore Eye Research Institute, Singapore
  • Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands
  • Department of Ophthalmology, University College Hospital, Ibadan, Nigeria
  • ECWA Eye Hospital, Kano, Nigeria
  • Guinness Eye Centre, Lagos University Teaching Hospital, Lagos, Nigeria
  • Eye Specialists Hospital, Enugu, Nigeria
  • Department of Ophthalmology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
  • Department of Ophthalmology, College of Medicine, University of Nigeria, Nsukka, Ituku Ozalla Campus, Enugu, Nigeria
  • Department of Ophthalmology, ESUT Teaching Hospital Parklane, Enugu, Nigeria
  • Department of Environmental Sciences, COMSATS Institute of Information Technology, Abbottabad, Pakistan
  • Pakistan Institute of Ophthalmology, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan
  • Centro Oftalmologico Lischinsky, Tucumán, Argentina
  • Universidad Peruana Cayetano Heredia, Hospital Nacional Arzobispo Loayza, Lima, Peru
  • Instituto de Glaucoma y Catarata, Lima, Peru
  • Clinical Research Centre Adolphe de Rothschild, Société Médicale de Beaulieu, Geneva, Switzerland
  • Mater Misericordiae University Hospital, Dublin, Ireland
  • Shri Mithu Tulsi, LV Prasad Eye Institute, Bhubaneswar, India
  • Hospital Córdoba, Córdoba, Argentina
  • Centro Oftalmologico Charles, Buenos Aires, Argentina
  • Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
  • Department of Ophthalmology and Westmead Institute for Medical Research, Centre for Vision Research, University of Sydney, Sydney, New South Wales, Australia
  • Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia
  • St. Petersburg Academic University, St. Petersburg, Russia
  • Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
  • Office of Clinical Sciences, Duke–NUS Medical School, Singapore
  • Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore
  • Department of Ophthalmology, Tan Tock Seng Hospital, Singapore
  • Department of Ophthalmology, University Hospital of Salamanca, Salamanca, Spain
  • Department of Medicine, Molecular Medicine Unit, University of Salamanca, Salamanca, Spain
  • GENVIP Research Group, Instituto de Investigación Sanitaria de Santiago, Santiago de Compostela, Spain
  • Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Santiago de Compostela, Spain
  • Department of Ophthalmology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand
  • Department of Ophthalmology, Rajavithi Hospital, Bangkok, Thailand
  • Department of Ophthalmology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
  • Centre National de la Recherche Scientifique, Unité de Recherche Associée 3012, Paris, France
  • Department of General Pediatrics, Medical University of Graz, Graz, Austria
  • Faculty of Infectious and Tropical Disease, London School of Hygiene and Tropical Medicine, London, UK
  • Division of Medical Genetics, University Hospital Basel, Basel, Switzerland
  • Institute of Human Genetics, University of Bonn, Bonn, Germany
  • Institute for Medical Informatics, Biometry and Epidemiology, University Hospital of Essen, University Duisburg-Essen, Essen, Germany
  • Division of Ophthalmology, Stellenbosch University and Tygerberg Hospital, Cape Town, South Africa
  • Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
  • Fernández-Vega Ophthalmological Institute, Oviedo, Spain
  • Department of Genetics, Eskisehir Osmangazi University, Meselik, Eskisehir, Turkey
  • Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey
  • DAMAGEN Genetic Diagnostic Center, Ankara, Turkey
  • School of Medicine, Wayne State University, Detroit, Michigan, USA
  • Center for Community Outreach and Policy, Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
  • Department of Cellular Biology and Anatomy, Center for Biotechnology and Genomic Medicine, James and Jean Culver Discovery Institute, Augusta University, Augusta, Georgia, USA
  • Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina, USA
  • Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA
  • Department of Ophthalmology and Shiley Eye Institute, Hamilton Glaucoma Center, University of California, San Diego, San Diego, California, USA
  • Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan
  • Department of Frontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan
  • Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, The Netherlands
  • Department of Ophthalmology, University of Turku and Turku University Hospital, Turku, Finland
  • Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA
  • Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, USA
  • Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA
  • Ophthalmic Consultants of Boston, Boston, Massachusetts, USA
  • Institute of Biomedical Technologies, Italian National Research Centre (ITB-CNR), Segrate-Milano, Italy
  • Department of Biochemistry, Al-Nafees Medical College and Hospital, Isra University, Islamabad, Pakistan
  • Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA
  • John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA
  • Department of Medicine, Rheumatology Unit, Karolinska Institutet and Karolinska University Hospital Solna, Stockholm, Sweden
  • Department of Pathology, Rigshospitalet, Eye Pathology Section, University of Copenhagen, Copenhagen, Denmark
  • Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
  • Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA
  • Institute of Computational Biology, Case Western Reserve University, Cleveland, Ohio, USA
  • Faculty of Medicine, University of Iceland, Reykjavik, Iceland
  • Department of Ophthalmology, Landspitali University Hospital, Reykjavik, Iceland
  • Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York, USA
  • Dr. G.Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, India
  • Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3875

    DOI

    http://dx.doi.org/10.1038/ng.3875

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1085707829

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28553957


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