Publication: Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
2
Issued Date
2016-05-01
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ISSN
15461718
10614036
10614036
DOI
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2-s2.0-84963502585
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Mahidol University
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SCOPUS
Bibliographic Citation
Nature Genetics. Vol.48, No.5 (2016), 556-562
Suggested Citation
Chiea Chuen Khor, Tan Do, Hongyan Jia, Masakazu Nakano, Ronnie George, Khaled Abu-Amero, Roopam Duvesh, Li Jia Chen, Zheng Li, Monisha E. Nongpiur, Shamira A. Perera, Chunyan Qiao, Hon Tym Wong, Hiroshi Sakai, Mônica Barbosa De Melo, Mei Chin Lee, Anita SChan, Yaakub Azhany, Thi Lam Huong Dao, Yoko Ikeda, Rodolfo A. Perez-Grossmann, Tomasz Zarnowski, Alexander C. Day, Jost B. Jonas, Pancy O.S. Tam, Tuan Anh Tran, Humaira Ayub, Farah Akhtar, Shazia Micheal, Paul T.K. Chew, Leyla A. Aljasim, Tanuj Dada, Tam Thi Luu, Mona S. Awadalla, Naris Kitnarong, Boonsong Wanichwecharungruang, Yee Yee Aung, Jelinar Mohamed-Noor, Saravanan Vijayan, Sripriya Sarangapani, Rahat Husain, Aliza Jap, Mani Baskaran, David Goh, Daniel H. Su, Huaizhou Wang, Vernon K. Yong, Leonard W. Yip, Tuyet Bach Trinh, Manchima Makornwattana, Thanh Thu Nguyen, Edgar U. Leuenberger, Ki Ho Park, Widya Artini Wiyogo, Rajesh SKumar, Celso Tello, Yasuo Kurimoto, Suman S. Thapa, Kessara Pathanapitoon, John F. Salmon, Yong Ho Sohn, Antonio Fea, Mineo Ozaki, Jimmy S.M. Lai, Visanee Tantisevi, Chaw Chaw Khaing, Takanori Mizoguchi, Satoko Nakano, Chan Yun Kim, Guangxian Tang, Sujie Fan, Renyi Wu, Hailin Meng, Thi Thuy Giang Nguyen, Tien Dat Tran, Morio Ueno, Jose Maria Martinez, Norlina Ramli, Yin Mon Aung, Rigo Daniel Reyes, Stephen A. Vernon, Seng Kheong Fang, Zhicheng Xie, Xiao Yin Chen, Jia Nee Foo Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nature Genetics. Vol.48, No.5 (2016), 556-562. doi:10.1038/ng.3540 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/43017
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Title
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
Author(s)
Chiea Chuen Khor
Tan Do
Hongyan Jia
Masakazu Nakano
Ronnie George
Khaled Abu-Amero
Roopam Duvesh
Li Jia Chen
Zheng Li
Monisha E. Nongpiur
Shamira A. Perera
Chunyan Qiao
Hon Tym Wong
Hiroshi Sakai
Mônica Barbosa De Melo
Mei Chin Lee
Anita SChan
Yaakub Azhany
Thi Lam Huong Dao
Yoko Ikeda
Rodolfo A. Perez-Grossmann
Tomasz Zarnowski
Alexander C. Day
Jost B. Jonas
Pancy O.S. Tam
Tuan Anh Tran
Humaira Ayub
Farah Akhtar
Shazia Micheal
Paul T.K. Chew
Leyla A. Aljasim
Tanuj Dada
Tam Thi Luu
Mona S. Awadalla
Naris Kitnarong
Boonsong Wanichwecharungruang
Yee Yee Aung
Jelinar Mohamed-Noor
Saravanan Vijayan
Sripriya Sarangapani
Rahat Husain
Aliza Jap
Mani Baskaran
David Goh
Daniel H. Su
Huaizhou Wang
Vernon K. Yong
Leonard W. Yip
Tuyet Bach Trinh
Manchima Makornwattana
Thanh Thu Nguyen
Edgar U. Leuenberger
Ki Ho Park
Widya Artini Wiyogo
Rajesh SKumar
Celso Tello
Yasuo Kurimoto
Suman S. Thapa
Kessara Pathanapitoon
John F. Salmon
Yong Ho Sohn
Antonio Fea
Mineo Ozaki
Jimmy S.M. Lai
Visanee Tantisevi
Chaw Chaw Khaing
Takanori Mizoguchi
Satoko Nakano
Chan Yun Kim
Guangxian Tang
Sujie Fan
Renyi Wu
Hailin Meng
Thi Thuy Giang Nguyen
Tien Dat Tran
Morio Ueno
Jose Maria Martinez
Norlina Ramli
Yin Mon Aung
Rigo Daniel Reyes
Stephen A. Vernon
Seng Kheong Fang
Zhicheng Xie
Xiao Yin Chen
Jia Nee Foo
Tan Do
Hongyan Jia
Masakazu Nakano
Ronnie George
Khaled Abu-Amero
Roopam Duvesh
Li Jia Chen
Zheng Li
Monisha E. Nongpiur
Shamira A. Perera
Chunyan Qiao
Hon Tym Wong
Hiroshi Sakai
Mônica Barbosa De Melo
Mei Chin Lee
Anita SChan
Yaakub Azhany
Thi Lam Huong Dao
Yoko Ikeda
Rodolfo A. Perez-Grossmann
Tomasz Zarnowski
Alexander C. Day
Jost B. Jonas
Pancy O.S. Tam
Tuan Anh Tran
Humaira Ayub
Farah Akhtar
Shazia Micheal
Paul T.K. Chew
Leyla A. Aljasim
Tanuj Dada
Tam Thi Luu
Mona S. Awadalla
Naris Kitnarong
Boonsong Wanichwecharungruang
Yee Yee Aung
Jelinar Mohamed-Noor
Saravanan Vijayan
Sripriya Sarangapani
Rahat Husain
Aliza Jap
Mani Baskaran
David Goh
Daniel H. Su
Huaizhou Wang
Vernon K. Yong
Leonard W. Yip
Tuyet Bach Trinh
Manchima Makornwattana
Thanh Thu Nguyen
Edgar U. Leuenberger
Ki Ho Park
Widya Artini Wiyogo
Rajesh SKumar
Celso Tello
Yasuo Kurimoto
Suman S. Thapa
Kessara Pathanapitoon
John F. Salmon
Yong Ho Sohn
Antonio Fea
Mineo Ozaki
Jimmy S.M. Lai
Visanee Tantisevi
Chaw Chaw Khaing
Takanori Mizoguchi
Satoko Nakano
Chan Yun Kim
Guangxian Tang
Sujie Fan
Renyi Wu
Hailin Meng
Thi Thuy Giang Nguyen
Tien Dat Tran
Morio Ueno
Jose Maria Martinez
Norlina Ramli
Yin Mon Aung
Rigo Daniel Reyes
Stephen A. Vernon
Seng Kheong Fang
Zhicheng Xie
Xiao Yin Chen
Jia Nee Foo
Other Contributor(s)
A-Star, Genome Institute of Singapore
Duke-NUS Medical School Singapore
National University of Singapore
Vietnam National Institute of Ophthalmology
Beijing Tongren Hospital
Kyoto Prefectural University of Medicine
Medical Research Foundation, Chennai
King Saud University Medical College
University of Florida
Aravind Medical Research Foundation
Chinese University of Hong Kong
Tan Tock Seng Hospital
University of the Ryukyus
Universidade Estadual de Campinas
School of Medical Sciences - Universiti Sains Malaysia
Instituto de Glaucoma y Catarata
Medical University of Lublin
Moorfields Eye Hospital NHS Foundation Trust
UCL Institute of Ophthalmology
Universität Heidelberg
Ho Chi Minh City Oncology Hospital
COMSATS Institute of Information Technology
Al-Shifa Trust Eye Hospital
Radboud University Nijmegen Medical Centre
National University Health System
King Khaled Eye Specialist Hospital
All India Institute of Medical Sciences, New Delhi
Da Nang Eye Hospital
Flinders University
Mahidol University
Rajavithi Hospital
Rangsit University
University of Medicine-Mandalay
Kuala Lumpur Hospital
Vision Research Foundation India
Changi General Hospital
Faculty of Medicine, Thammasat University
Viet Tiep General Hospital
Asian Eye Institute
University of the East, Philippines
Seoul National University
Jakarta Eye Center
Universitas Indonesia
Narayana Nethralaya Eye Hospital
New York Eye and Ear Infirmary
Kobe City Medical Center General Hospital
Tilganga Institute of Ophthalmology
Chiang Mai University
University of Oxford
Konyang University
Università degli Studi di Torino
Ozaki Eye Hospital
University of Miyazaki
The University of Hong Kong
Chulalongkorn University
No. 1 Defence Services General Hospital
Mizoguchi Eye Clinic
Oita University
Yonsei University
Shijiazhuang First Eye Hospital
Handan Eye Hospital
Xiamen University
Anyang Eye Hospital
Pasig City General Hospital
University of Malaya
Pun Hlaing Silom Hospital
Shwe La Min Hospital
Asian Hospital and Medical Center, Muntinlupa
Binan Doctors Hospital
Nottingham University Hospitals NHS Trust
BMI Park Hospital
International Specialist Eye Centre
Aravind Eye Hospital
Duke-NUS Medical School Singapore
National University of Singapore
Vietnam National Institute of Ophthalmology
Beijing Tongren Hospital
Kyoto Prefectural University of Medicine
Medical Research Foundation, Chennai
King Saud University Medical College
University of Florida
Aravind Medical Research Foundation
Chinese University of Hong Kong
Tan Tock Seng Hospital
University of the Ryukyus
Universidade Estadual de Campinas
School of Medical Sciences - Universiti Sains Malaysia
Instituto de Glaucoma y Catarata
Medical University of Lublin
Moorfields Eye Hospital NHS Foundation Trust
UCL Institute of Ophthalmology
Universität Heidelberg
Ho Chi Minh City Oncology Hospital
COMSATS Institute of Information Technology
Al-Shifa Trust Eye Hospital
Radboud University Nijmegen Medical Centre
National University Health System
King Khaled Eye Specialist Hospital
All India Institute of Medical Sciences, New Delhi
Da Nang Eye Hospital
Flinders University
Mahidol University
Rajavithi Hospital
Rangsit University
University of Medicine-Mandalay
Kuala Lumpur Hospital
Vision Research Foundation India
Changi General Hospital
Faculty of Medicine, Thammasat University
Viet Tiep General Hospital
Asian Eye Institute
University of the East, Philippines
Seoul National University
Jakarta Eye Center
Universitas Indonesia
Narayana Nethralaya Eye Hospital
New York Eye and Ear Infirmary
Kobe City Medical Center General Hospital
Tilganga Institute of Ophthalmology
Chiang Mai University
University of Oxford
Konyang University
Università degli Studi di Torino
Ozaki Eye Hospital
University of Miyazaki
The University of Hong Kong
Chulalongkorn University
No. 1 Defence Services General Hospital
Mizoguchi Eye Clinic
Oita University
Yonsei University
Shijiazhuang First Eye Hospital
Handan Eye Hospital
Xiamen University
Anyang Eye Hospital
Pasig City General Hospital
University of Malaya
Pun Hlaing Silom Hospital
Shwe La Min Hospital
Asian Hospital and Medical Center, Muntinlupa
Binan Doctors Hospital
Nottingham University Hospitals NHS Trust
BMI Park Hospital
International Specialist Eye Centre
Aravind Eye Hospital
Abstract
© 2016 Nature America, Inc. 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 -5), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10 -6), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10 -4), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10 -1), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10 -2). We also confirmed significant association at three previously described loci (P < 5 × 10 â'8 for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.