Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

Chiea Chuen Khor^{1

2

3}, Tan Do⁴, Hongyan Jia⁵, Masakazu Nakano⁶, Ronnie George⁷, Khaled Abu-Amero^{8

9}, Roopam Duvesh¹⁰, Li Jia Chen¹¹, Zheng Li¹, Monisha E Nongpiur², Shamira A Perera², Chunyan Qiao⁵, Hon-Tym Wong¹², Hiroshi Sakai¹³, Mônica Barbosa de Melo¹⁴, Mei-Chin Lee², Anita S Chan², Yaakub Azhany¹⁵, Thi Lam Huong Dao⁴, Yoko Ikeda¹⁶, Rodolfo A Perez-Grossmann¹⁷, Tomasz Zarnowski¹⁸, Alexander C Day^{19

20

21}, Jost B Jonas²², Pancy O S Tam¹¹, Tuan Anh Tran²³, Humaira Ayub²⁴, Farah Akhtar²⁵, Shazia Micheal²⁶, Paul T K Chew²⁷, Leyla A Aljasim²⁸, Tanuj Dada²⁹, Tam Thi Luu³⁰, Mona S Awadalla³¹, Naris Kitnarong³², Boonsong Wanichwecharungruang^{33

34}, Yee Yee Aung³⁵, Jelinar Mohamed-Noor³⁶, Saravanan Vijayan¹⁰, Sripriya Sarangapani³⁷, Rahat Husain^{2

38}, Aliza Jap^{2

38}, Mani Baskaran², David Goh², Daniel H Su², Huaizhou Wang⁵, Vernon K Yong¹², Leonard W Yip¹², Tuyet Bach Trinh²³, Manchima Makornwattana³⁹, Thanh Thu Nguyen⁴⁰, Edgar U Leuenberger^{41

42}, Ki-Ho Park⁴³, Widya Artini Wiyogo^{44

45}, Rajesh S Kumar⁴⁶, Celso Tello⁴⁷, Yasuo Kurimoto⁴⁸, Suman S Thapa⁴⁹, Kessara Pathanapitoon⁵⁰, John F Salmon⁵¹, Yong Ho Sohn⁵², Antonio Fea⁵³, Mineo Ozaki^{54

55}, Jimmy S M Lai⁵⁶, Visanee Tantisevi⁵⁷, Chaw Chaw Khaing⁵⁸, Takanori Mizoguchi⁵⁹, Satoko Nakano⁶⁰, Chan-Yun Kim⁶¹, Guangxian Tang⁶², Sujie Fan⁶³, Renyi Wu⁶⁴, Hailin Meng⁶⁵, Thi Thuy Giang Nguyen⁴, Tien Dat Tran⁴, Morio Ueno¹⁶, Jose Maria Martinez⁶⁶, Norlina Ramli^{67

68}, Yin Mon Aung^{69

70}, Rigo Daniel Reyes^{71

72}, Stephen A Vernon^{73

74}, Seng Kheong Fang⁷⁵, Zhicheng Xie¹, Xiao Yin Chen¹, Jia Nee Foo¹, Kar Seng Sim¹, Tina T Wong², Desmond T Quek², Rengaraj Venkatesh⁷⁶, Srinivasan Kavitha⁷⁶, Subbiah R Krishnadas⁷⁷, Nagaswamy Soumittra³⁷, Balekudaru Shantha⁷, Boon-Ang Lim¹², Jeanne Ogle¹², José P C de Vasconcellos⁷⁸, Vital P Costa⁷⁷, Ricardo Y Abe⁷⁷, Bruno B de Souza¹⁴, Chelvin C Sng²⁷, Maria C Aquino²⁷, Ewa Kosior-Jarecka¹⁸, Guillermo Barreto Fong⁷⁹, Vania Castro Tamanaja⁸⁰, Ricardo Fujita⁸¹, Yuzhen Jiang^{19

20

21}, Naushin Waseem^{19

21}, Sancy Low^{19

20

21}, Huan Nguyen Pham²³, Sami Al-Shahwan²⁸, E Randy Craven^{28

82}, Muhammad Imran Khan⁸³, Rrima Dada²⁹, Kuldeep Mohanty²⁹, Muneeb A Faiq²⁹, Alex W Hewitt^{84

85}, Kathryn P Burdon^{31

84}, Eng Hui Gan³⁶, Anuwat Prutthipongsit³⁹, Thipnapa Patthanathamrongkasem³⁹, Mary Ann T Catacutan⁴¹, Irene R Felarca⁴¹, Chona S Liao⁴¹, Emma Rusmayani⁴⁴, Vira Wardhana Istiantoro⁴⁴, Giulia Consolandi⁵³, Giulia Pignata⁵³, Carlo Lavia⁵³, Prin Rojanapongpun⁵⁷, Lerprat Mangkornkanokpong⁸⁶, Sunee Chansangpetch⁸⁶, Jonathan C H Chan⁸⁷, Bonnie N K Choy⁵⁶, Jennifer W H Shum⁵⁶, Hlaing May Than⁸⁸, Khin Thida Oo^{69

70}, Aye Thi Han^{69

70}, Victor H Yong², Xiao-Yu Ng², Shuang Ru Goh², Yaan Fun Chong², Martin L Hibberd¹, Mark Seielstad⁸⁹, Eileen Png¹, Sarah J Dunstan^{90

91}, Nguyen Van Vinh Chau⁹², Jinxin Bei^{93

94}, Yi Xin Zeng^{93

94

95}, Abhilasha Karkey⁹⁶, Buddha Basnyat⁹⁶, Francesca Pasutto⁹⁷, Daniela Paoli⁹⁸, Paolo Frezzotti⁹⁹, Jie Jin Wang¹⁰⁰, Paul Mitchell¹⁰⁰, John H Fingert^{101

102}, R Rand Allingham^{2

103}, Michael A Hauser^{2

103

104}, Soon Thye Lim¹⁰⁵, Soo Hong Chew¹⁰⁶, Richard P Ebstein¹⁰⁷, Anavaj Sakuntabhai^{108

109}, Kyu Hyung Park¹¹⁰, Jeeyun Ahn¹¹¹, Greet Boland¹¹², Harm Snippe¹¹², Richard Stead⁷³, Raquel Quino⁷¹, Su Nyunt Zaw^{69

70}, Urszula Lukasik¹⁸, Rohit Shetty⁴⁶, Mimiwati Zahari^{67

68}, Hyoung Won Bae⁶¹, Nay Lin Oo⁵⁸, Toshiaki Kubota⁶⁰, Anita Manassakorn⁵⁷, Wing Lau Ho⁸⁶, Laura Dallorto⁵³, Young Hoon Hwang⁵², Christine A Kiire⁵¹, Masako Kuroda⁴⁸, Zeiras Eka Djamal⁴⁴, Jovell Ian M Peregrino⁴¹, Arkasubhra Ghosh^{46

113}, Jin Wook Jeoung⁴³, Tung S Hoan⁴⁰, Nuttamon Srisamran³⁹, Thayanithi Sandragasu³⁶, Saw Htoo Set³⁵, Vi Huyen Doan³⁰, Shomi S Bhattacharya²¹, Ching-Lin Ho², Donald T Tan², Ramanjit Sihota²⁹, Seng-Chee Loon²⁷, Kazuhiko Mori¹⁶, Shigeru Kinoshita¹⁶, Anneke I den Hollander^{26

83}, Raheel Qamar^{24

114}, Ya-Xing Wang¹¹⁵, Yik Y Teo^{1

116

115

116

117

118

119}, E-Shyong Tai^{116

120}, Curt Hartleben-Matkin¹²¹, David Lozano-Giral¹²², Seang Mei Saw^{2

116}, Ching-Yu Cheng^{2

27}, Juan C Zenteno^{122

123}, Chi Pui Pang¹¹, Huong T T Bui²³, Owen Hee¹², Jamie E Craig³¹, Deepak P Edward^{28

82}, Michiko Yonahara¹³, Jamil Miguel Neto⁷⁸, Maria L Guevara-Fujita⁸¹, Liang Xu¹¹⁵, Robert Ritch⁴⁷, Ahmad Tajudin Liza-Sharmini¹⁵, Tien Y Wong², Saleh Al-Obeidan⁸, Nhu Hon Do⁴, Periasamy Sundaresan¹⁰, Clement C Tham¹¹, Paul J Foster^{19

20

21}, Lingam Vijaya^{2

7}, Kei Tashiro⁶, Eranga N Vithana², Ningli Wang^{5

115}, Tin Aung^{2

27}

Affiliations

¹ Genome Institute of Singapore, A-STAR, Singapore.
² Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.
³ Department of Biochemistry, National University of Singapore, Singapore.
⁴ Vietnam National Institute of Ophthalmology, Hanoi, Vietnam.
⁵ Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
⁶ Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
⁷ Jadhavbhai Nathamal Singhvi Department of Glaucoma, Medical Research Foundation, Sankara Nethralaya, Chennai, India.
⁸ Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
⁹ Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, Florida, USA.
¹⁰ Department of Genetics, Aravind Medical Research Foundation, Madurai, India.
¹¹ Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Hong Kong, China.
¹² Department of Ophthalmology, Tan Tock Seng Hospital, NHG Eye Institute, Singapore.
¹³ Department of Ophthalmology, University of the Ryukyus, Okinawa, Nishihara, Japan.
¹⁴ Center of Molecular Biology and Genetic Engineering, University of Campinas, Campinas, Brazil.
¹⁵ Department of Ophthalmology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia and Hospital Universiti Sains Malaysia, Kelantan, Malaysia.
¹⁶ Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
¹⁷ Instituto de Glaucoma y Catarata, Lima, Peru.
¹⁸ Department of Diagnostics and Microsurgery of Glaucoma, Medical University, Lublin, Poland.
¹⁹ NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and University College London Institute of Ophthalmology, London, UK.
²⁰ Glaucoma Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
²¹ Division of Genetics, UCL Institute of Ophthalmology, London, UK.
²² Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht Karls University Heidelberg, Heidelberg, Germany.
²³ Ho Chi Minh City Eye Hospital, Ho Chi Minh City, Vietnam.
²⁴ Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
²⁵ Pakistan Institute of Ophthalmology, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
²⁶ Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
²⁷ Department of Ophthalmology, National University Health System, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
²⁸ King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
²⁹ All India Institute of Medical Sciences, New Delhi, India.
³⁰ Department of Glaucoma, Da Nang Eye Hospital, Da Nang City, Vietnam.
³¹ Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.
³² Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
³³ Glaucoma Services, Department of Ophthalmology, Rajavithi Hospital, Bangkok, Thailand.
³⁴ College of Medicine, Rangsit University, Bangkok, Thailand.
³⁵ Mandalay Eye Department, Mandalay Eye ENT Hospital, University of Medicine Mandalay, Mandalay, Myanmar.
³⁶ Department of Ophthalmology, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
³⁷ Vision Research Foundation, Sankara Nethralaya, Chennai, India.
³⁸ Division of Ophthalmology, Changi General Hospital, Singapore.
³⁹ Department of Ophthalmology, Thammasat University Faculty of Medicine, Rangsit, Thailand.
⁴⁰ Eye Department, Viet Tiep General Hospital, Hai Phong, Vietnam.
⁴¹ Asian Eye Institute, Manila, Philippines.
⁴² Division of Ophthalmology, University of the East, Manila, Philippines.
⁴³ Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Republic of Korea.
⁴⁴ Glaucoma Service Jakarta Eye Center, Jakarta, Indonesia.
⁴⁵ Faculty of Medicine, University of Indonesia, Jakarta, Indonesia.
⁴⁶ Narayana Nethralaya Eye Hospital, Bangalore, India.
⁴⁷ Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York, USA.
⁴⁸ Department of Ophthalmology, Kobe City Medical Center General Hospital, Kobe, Japan.
⁴⁹ Nepal Glaucoma Eye Clinic, Tilganga Institute of Ophthalmology, Kathmandu, Nepal.
⁵⁰ Department of Ophthalmology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
⁵¹ Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
⁵² Department of Ophthalmology, Konyang University, Kim's Eye Hospital, Myung-Gok Eye Research Institute, Seoul, Republic of Korea.
⁵³ Dipartimento di Scienze Chirurgiche, Università di Torino, Turin, Italy.
⁵⁴ Ozaki Eye Hospital, Hyuga, Japan.
⁵⁵ Department of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
⁵⁶ Department of Ophthalmology, University of Hong Kong, Hong Kong, China.
⁵⁷ Department of Ophthalmology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
⁵⁸ Department of Ophthalmology, No. 1 Defence Services General Hospital, Yangon, Myanmar.
⁵⁹ Mizoguchi Eye Hospital, Sasebo, Japan.
⁶⁰ Department of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.
⁶¹ Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Republic of Korea.
⁶² Shijiazhuang First Eye Hospital, Shijiazhuang, China.
⁶³ Handan Eye Hospital, Handan, China.
⁶⁴ Eye Institute and Affiliated Xiamen Eye Center, Xiamen University, Fujian Provincial Key Laboratory of Ophthalmology and Visual Science, Xiamen, China.
⁶⁵ Anyang Eye Hospital, Anyang, China.
⁶⁶ Department of Ophthalmology, Pasig City General Hospital, Pasig City, Philippines.
⁶⁷ University of Malaya, Eye Research Centre, Kuala Lumpur, Malaysia.
⁶⁸ Department of Ophthalmology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
⁶⁹ Myanmar Eye Centre, Pun Hlaing Silom Hospital, Yangon, Myanmar.
⁷⁰ Myanmar Eye Centre, Shwe La Min Hospital, Yangon, Myanmar.
⁷¹ Department of Ophthalmology/Glaucoma Section, Asian Hospital and Medical Center, Muntinlupa City, Philippines.
⁷² Binan Doctors Eye Center, Binan Doctors Hospital, Laguna, Philippines.
⁷³ Department of Ophthalmology, University Hospital Nottingham, University of Nottingham, Nottingham, UK.
⁷⁴ BMI Park Hospital Nottingham, Nottingham, UK.
⁷⁵ International Specialist Eye Centre, Kuala Lumpur, Malaysia.
⁷⁶ Glaucoma Clinic, Aravind Eye Hospital, Pondicherry, India.
⁷⁷ Glaucoma Clinic, Aravind Eye Hospital, Madurai, India.
⁷⁸ Department of Ophthalmology, Faculty of Medical Sciences, University of Campinas, Campinas, Brazil.
⁷⁹ Instituto de Ciencias Médicas, Lima, Peru.
⁸⁰ Hospital Nacional Arzobispo Loayza, Lima, Peru.
⁸¹ Centro de Genética y Biología Molecular, Universidad de San Martín de Porres, Lima, Peru.
⁸² Wilmer Eye Institute, Johns Hopkins Hospital School of Medicine, Baltimore, Maryland, USA.
⁸³ Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
⁸⁴ Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
⁸⁵ Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
⁸⁶ Department of Ophthalmology, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
⁸⁷ Department of Ophthalmology, Queen Mary Hospital, Hong Kong, China.
⁸⁸ Department of Ophthalmology, North Okkalarpa General Hospital, Yangon, Myanmar.
⁸⁹ Institute for Human Genetics, University of California, San Francisco, San Francisco, California, USA.
⁹⁰ Oxford University Clinical Research Unit, Ho Chi Minh City, Vietnam.
⁹¹ Peter Doherty Institute for Infection and Immunity, University of Melbourne, Melbourne, Victoria, Australia.
⁹² Hospital for Tropical Diseases, Ho Chi Minh City, Vietnam.
⁹³ Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
⁹⁴ Department of Experimental Research, Sun Yat-sen University Cancer Center, Guangzhou, China.
⁹⁵ Peking Union Medical College, Beijing, China.
⁹⁶ Oxford University Clinical Research Unit-Nepal, Patan Academy of Health Sciences, Patan Hospital, Patan, Nepal.
⁹⁷ Institute of Human Genetics, Friedrich Alexander Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
⁹⁸ Department of Ophthalmology, Monfalcone Hospital, Gorizia, Italy.
⁹⁹ Department of Surgery, Section of Ophthalmology, University of Siena, Siena, Italy.
¹⁰⁰ Centre for Vision Research, Department of Ophthalmology, Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
¹⁰¹ Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
¹⁰² Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, USA.
¹⁰³ Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina, USA.
¹⁰⁴ Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA.
¹⁰⁵ Division of Medical Oncology, National Cancer Centre, Singapore.
¹⁰⁶ Department of Economics, National University of Singapore, Singapore.
¹⁰⁷ Department of Psychology, National University of Singapore, Singapore.
¹⁰⁸ Institut Pasteur, Functional Genetics of Infectious Diseases Unit, Department of Genomes and Genetics, Paris, France.
¹⁰⁹ Centre National de la Recherche Scientifique, Unité de Recherche Associée 3012, Paris, France.
¹¹⁰ Department of Ophthalmology, Seoul National University Bundang Hospital, Gyeonggi, Republic of Korea.
¹¹¹ Department of Ophthalmology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Republic of Korea.
¹¹² Department of Medical Microbiology and Virology, University Medical Center Utrecht, Utrecht, the Netherlands.
¹¹³ GROW Research Laboratory, Narayana Nethralaya Foundation, Bangalore, India.
¹¹⁴ Department of Biochemistry, Al-Nafees Medical College and Hospital, Isra University, Islamabad, Pakistan.
¹¹⁵ Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
¹¹⁶ Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
¹¹⁷ Life Sciences Institute, National University of Singapore, Singapore.
¹¹⁸ National University of Singapore Graduate School for Integrative Science and Engineering, National University of Singapore, Singapore.
¹¹⁹ Department of Statistics and Applied Probability, National University of Singapore, Singapore.
¹²⁰ Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
¹²¹ Department of Glaucoma, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.
¹²² Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.
¹²³ Department of Biochemistry, Faculty of Medicine, Universidad Nacional Autónoma de México, Mexico City, Mexico.

PMID: 27064256
DOI: 10.1038/ng.3540

Free article

Meta-Analysis

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

Chiea Chuen Khor et al. Nat Genet. 2016 May.

Free article

. 2016 May;48(5):556-62.

doi: 10.1038/ng.3540. Epub 2016 Apr 4.

Authors

Affiliations

¹ Genome Institute of Singapore, A-STAR, Singapore.
² Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.
³ Department of Biochemistry, National University of Singapore, Singapore.
⁴ Vietnam National Institute of Ophthalmology, Hanoi, Vietnam.
⁵ Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
⁶ Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
⁷ Jadhavbhai Nathamal Singhvi Department of Glaucoma, Medical Research Foundation, Sankara Nethralaya, Chennai, India.
⁸ Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
⁹ Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, Florida, USA.
¹⁰ Department of Genetics, Aravind Medical Research Foundation, Madurai, India.
¹¹ Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Hong Kong, China.
¹² Department of Ophthalmology, Tan Tock Seng Hospital, NHG Eye Institute, Singapore.
¹³ Department of Ophthalmology, University of the Ryukyus, Okinawa, Nishihara, Japan.
¹⁴ Center of Molecular Biology and Genetic Engineering, University of Campinas, Campinas, Brazil.
¹⁵ Department of Ophthalmology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia and Hospital Universiti Sains Malaysia, Kelantan, Malaysia.
¹⁶ Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
¹⁷ Instituto de Glaucoma y Catarata, Lima, Peru.
¹⁸ Department of Diagnostics and Microsurgery of Glaucoma, Medical University, Lublin, Poland.
¹⁹ NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and University College London Institute of Ophthalmology, London, UK.
²⁰ Glaucoma Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
²¹ Division of Genetics, UCL Institute of Ophthalmology, London, UK.
²² Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht Karls University Heidelberg, Heidelberg, Germany.
²³ Ho Chi Minh City Eye Hospital, Ho Chi Minh City, Vietnam.
²⁴ Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
²⁵ Pakistan Institute of Ophthalmology, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
²⁶ Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
²⁷ Department of Ophthalmology, National University Health System, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
²⁸ King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
²⁹ All India Institute of Medical Sciences, New Delhi, India.
³⁰ Department of Glaucoma, Da Nang Eye Hospital, Da Nang City, Vietnam.
³¹ Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.
³² Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
³³ Glaucoma Services, Department of Ophthalmology, Rajavithi Hospital, Bangkok, Thailand.
³⁴ College of Medicine, Rangsit University, Bangkok, Thailand.
³⁵ Mandalay Eye Department, Mandalay Eye ENT Hospital, University of Medicine Mandalay, Mandalay, Myanmar.
³⁶ Department of Ophthalmology, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
³⁷ Vision Research Foundation, Sankara Nethralaya, Chennai, India.
³⁸ Division of Ophthalmology, Changi General Hospital, Singapore.
³⁹ Department of Ophthalmology, Thammasat University Faculty of Medicine, Rangsit, Thailand.
⁴⁰ Eye Department, Viet Tiep General Hospital, Hai Phong, Vietnam.
⁴¹ Asian Eye Institute, Manila, Philippines.
⁴² Division of Ophthalmology, University of the East, Manila, Philippines.
⁴³ Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Republic of Korea.
⁴⁴ Glaucoma Service Jakarta Eye Center, Jakarta, Indonesia.
⁴⁵ Faculty of Medicine, University of Indonesia, Jakarta, Indonesia.
⁴⁶ Narayana Nethralaya Eye Hospital, Bangalore, India.
⁴⁷ Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York, USA.
⁴⁸ Department of Ophthalmology, Kobe City Medical Center General Hospital, Kobe, Japan.
⁴⁹ Nepal Glaucoma Eye Clinic, Tilganga Institute of Ophthalmology, Kathmandu, Nepal.
⁵⁰ Department of Ophthalmology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
⁵¹ Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
⁵² Department of Ophthalmology, Konyang University, Kim's Eye Hospital, Myung-Gok Eye Research Institute, Seoul, Republic of Korea.
⁵³ Dipartimento di Scienze Chirurgiche, Università di Torino, Turin, Italy.
⁵⁴ Ozaki Eye Hospital, Hyuga, Japan.
⁵⁵ Department of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
⁵⁶ Department of Ophthalmology, University of Hong Kong, Hong Kong, China.
⁵⁷ Department of Ophthalmology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
⁵⁸ Department of Ophthalmology, No. 1 Defence Services General Hospital, Yangon, Myanmar.
⁵⁹ Mizoguchi Eye Hospital, Sasebo, Japan.
⁶⁰ Department of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.
⁶¹ Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Republic of Korea.
⁶² Shijiazhuang First Eye Hospital, Shijiazhuang, China.
⁶³ Handan Eye Hospital, Handan, China.
⁶⁴ Eye Institute and Affiliated Xiamen Eye Center, Xiamen University, Fujian Provincial Key Laboratory of Ophthalmology and Visual Science, Xiamen, China.
⁶⁵ Anyang Eye Hospital, Anyang, China.
⁶⁶ Department of Ophthalmology, Pasig City General Hospital, Pasig City, Philippines.
⁶⁷ University of Malaya, Eye Research Centre, Kuala Lumpur, Malaysia.
⁶⁸ Department of Ophthalmology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
⁶⁹ Myanmar Eye Centre, Pun Hlaing Silom Hospital, Yangon, Myanmar.
⁷⁰ Myanmar Eye Centre, Shwe La Min Hospital, Yangon, Myanmar.
⁷¹ Department of Ophthalmology/Glaucoma Section, Asian Hospital and Medical Center, Muntinlupa City, Philippines.
⁷² Binan Doctors Eye Center, Binan Doctors Hospital, Laguna, Philippines.
⁷³ Department of Ophthalmology, University Hospital Nottingham, University of Nottingham, Nottingham, UK.
⁷⁴ BMI Park Hospital Nottingham, Nottingham, UK.
⁷⁵ International Specialist Eye Centre, Kuala Lumpur, Malaysia.
⁷⁶ Glaucoma Clinic, Aravind Eye Hospital, Pondicherry, India.
⁷⁷ Glaucoma Clinic, Aravind Eye Hospital, Madurai, India.
⁷⁸ Department of Ophthalmology, Faculty of Medical Sciences, University of Campinas, Campinas, Brazil.
⁷⁹ Instituto de Ciencias Médicas, Lima, Peru.
⁸⁰ Hospital Nacional Arzobispo Loayza, Lima, Peru.
⁸¹ Centro de Genética y Biología Molecular, Universidad de San Martín de Porres, Lima, Peru.
⁸² Wilmer Eye Institute, Johns Hopkins Hospital School of Medicine, Baltimore, Maryland, USA.
⁸³ Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
⁸⁴ Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
⁸⁵ Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
⁸⁶ Department of Ophthalmology, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
⁸⁷ Department of Ophthalmology, Queen Mary Hospital, Hong Kong, China.
⁸⁸ Department of Ophthalmology, North Okkalarpa General Hospital, Yangon, Myanmar.
⁸⁹ Institute for Human Genetics, University of California, San Francisco, San Francisco, California, USA.
⁹⁰ Oxford University Clinical Research Unit, Ho Chi Minh City, Vietnam.
⁹¹ Peter Doherty Institute for Infection and Immunity, University of Melbourne, Melbourne, Victoria, Australia.
⁹² Hospital for Tropical Diseases, Ho Chi Minh City, Vietnam.
⁹³ Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
⁹⁴ Department of Experimental Research, Sun Yat-sen University Cancer Center, Guangzhou, China.
⁹⁵ Peking Union Medical College, Beijing, China.
⁹⁶ Oxford University Clinical Research Unit-Nepal, Patan Academy of Health Sciences, Patan Hospital, Patan, Nepal.
⁹⁷ Institute of Human Genetics, Friedrich Alexander Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
⁹⁸ Department of Ophthalmology, Monfalcone Hospital, Gorizia, Italy.
⁹⁹ Department of Surgery, Section of Ophthalmology, University of Siena, Siena, Italy.
¹⁰⁰ Centre for Vision Research, Department of Ophthalmology, Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
¹⁰¹ Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
¹⁰² Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, USA.
¹⁰³ Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina, USA.
¹⁰⁴ Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA.
¹⁰⁵ Division of Medical Oncology, National Cancer Centre, Singapore.
¹⁰⁶ Department of Economics, National University of Singapore, Singapore.
¹⁰⁷ Department of Psychology, National University of Singapore, Singapore.
¹⁰⁸ Institut Pasteur, Functional Genetics of Infectious Diseases Unit, Department of Genomes and Genetics, Paris, France.
¹⁰⁹ Centre National de la Recherche Scientifique, Unité de Recherche Associée 3012, Paris, France.
¹¹⁰ Department of Ophthalmology, Seoul National University Bundang Hospital, Gyeonggi, Republic of Korea.
¹¹¹ Department of Ophthalmology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Republic of Korea.
¹¹² Department of Medical Microbiology and Virology, University Medical Center Utrecht, Utrecht, the Netherlands.
¹¹³ GROW Research Laboratory, Narayana Nethralaya Foundation, Bangalore, India.
¹¹⁴ Department of Biochemistry, Al-Nafees Medical College and Hospital, Isra University, Islamabad, Pakistan.
¹¹⁵ Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
¹¹⁶ Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
¹¹⁷ Life Sciences Institute, National University of Singapore, Singapore.
¹¹⁸ National University of Singapore Graduate School for Integrative Science and Engineering, National University of Singapore, Singapore.
¹¹⁹ Department of Statistics and Applied Probability, National University of Singapore, Singapore.
¹²⁰ Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
¹²¹ Department of Glaucoma, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.
¹²² Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.
¹²³ Department of Biochemistry, Faculty of Medicine, Universidad Nacional Autónoma de México, Mexico City, Mexico.

PMID: 27064256
DOI: 10.1038/ng.3540

Abstract

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.

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References

1. Am J Hum Genet. 2013 Aug 8;93(2):264-77 - PubMed
1. Nat Genet. 2006 Jun;38(6):682-7 - PubMed
1. Nat Genet. 2009 Aug;41(8):885-90 - PubMed
1. Nat Genet. 2011 Jan;43(1):60-5 - PubMed
1. N Engl J Med. 2011 Jul 28;365(4):307-17 - PubMed

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Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

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Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

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