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

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; Monica Barbosa de Melo; Mei-Chin Lee; Anita S. Chan; 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 S. Kumar; 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; Sephen A. Vernon; Seng Kheong Fang; Zhicheng Xie; Xiao Yin Chen; Jia Nee Foo; Kar Seng Sim; Tina T. Wong; Desmond T. Quek; Rengaraj Venkatesh; Srinivasan Kavitha; Subbiah R. Krishnadas; Nagaswamy Soumittra; Balekudaru Shantha; Boon-Ang Lim; Jeanne Ogle; Jose P. C. de Vasconcellos; Vital P. Costa; Ricardo Y. Abe; Bruno B. de Souza; Chelvin C. Sng; Maria C. Aquino; Ewa Kosior-Jarecka; Guillermo Barreto Fong; Vania Castro Tamanaja; Ricardo Fujita; Yuzhen Jiang; Naushin Waseem; Sancy Low; Huan Nguyen Pham; Sami Al-Shahwan; E. Randy Craven; Muhammad Imran Khan; Rrima Dada; Kuldeep Mohanty; Muneeb A. Faiq; Alex W. Hewitt; Kathryn P. Burdon; Eng Hui Gan; Anuwat Prutthipongsit; Thipnapa Patthanathamrongkasem; Mary Ann T. Catacutan; Irene R. Felarca; Chona S. Liao; Emma Rusmayani; Vira Wardhana Istiantoro; Giulia Consolandi; Giulia Pignata; Carlo Lavia; Prin Rojanapongpun; Lerprat Mangkornkanokpong; Sunee Chansangpetch; Jonathan C. H. Chan; Bonnie N. K. Choy; Jennifer W. H. Shum; Hlaing May Than; Khin Thida Oo; Aye Thi Han; Victor H. Yong; Xiao-Yu Ng; Shuang Ru Goh; Yaan Fun Chong; Martin L. Hibberd; Mark Seielstad; Eileen Png; Sarah J. Dunstan; Nguyen Van Vinh Chau; Jinxin Bei; Yi Xin Zeng; Abhilasha Karkey; Buddha Basnyat; Francesca Pasutto; Daniela Paoli; Paolo Frezzotti; Jie Jin Wang; Paul Mitchell; John H. Fingert; R. Rand Allingham; Michael A. Hauser; Soon Thye Lim; Soo Hong Chew; Richard P. Ebstein; Anavaj Sakuntabhai; Kyu Hyung Park; Jeeyun Ahn; Greet Boland; Harm Snippe; Richard Stead; Raquel Quino; Su Nyunt Zaw; Urszula Lukasik; Rohit Shetty; Mimiwati Zahari; Hyoung Won Bae; Nay Lin Oo; Toshiaki Kubota; Anita Manassakorn; Wing Lau Ho; Laura Dallorto; Young Hoon Hwang; Christine A. Kiire; Masako Kuroda; Zeiras Eka Djamal; Jovell Ian M. Peregrino; Arkasubhra Ghosh; Jin Wook Jeoung; Tung S. Hoan; Nuttamon Srisamran; Thayanithi Sandragasu; Saw Htoo Set; Vi Huyen Doan; Shomi S. Bhattacharya; Ching-Lin Ho; Donald T. Tan; Ramanjit Sihota; Seng-Chee Loon; Kazuhiko Mori; Shigeru Kinoshita; Anneke I. den Hollander; Raheel Qamar; Ya-Xing Wang; Yik Y. Teo; E-Shyong Tai; Curt Hartleben-Matkin; David Lozano-Giral; Seang Mei Saw; Ching-Yu Cheng; Juan C. Zenteno; Chi Pui Pang; Huong T. T. Bui; Owen Hee; Jamie E. Craig; Deepak P. Edward; Michiko Yonahara; Jamil Miguel Neto; Maria L. Guevara-Fujita; Liang Xu; Robert Ritch; Ahmad Tajudin Liza-Sharmini; Tien Y. Wong; Saleh Al-Obeidan; Nhu Hon Do; Periasamy Sundaresan; Clement C. Tham; Paul J. Foster; Lingam Vijaya; Kei Tashiro; Eranga N. Vithana; Ningli Wang; Tin Aung

doi:10.1038/ng.3540

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

Journal article

Peer reviewed

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

Chiea Chuen Khor, Tan Do, Hongyan Jia, Masakazu Nakano, Ronnie George, Khaled Abu-Amero, Roopam Duvesh, Li Jia Chen, Zheng Li, Monisha E. Nongpiur, …

Nature genetics, Vol.48(5), pp.556-562

01/05/2016

DOI: https://doi.org/10.1038/ng.3540

PMID: 27064256

Abstract

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

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 x 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 x 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 x 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 x 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 x 10(-12)). We also confirmed significant association at three previously described loci (P < 5 x 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18)(1), providing new insights into the biology of PACG.

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Title: Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
Creators - without role: Chiea Chuen Khor - Genome Institute of Singapore
Tan Do - Vietnam Natl Inst Ophthalmol, Hanoi, Vietnam
Hongyan Jia - Beijing Tongren Hospital
Masakazu Nakano - Kyoto Prefectural University of Medicine
Ronnie George - Sankara Nethralaya
Khaled Abu-Amero - King Saud University
Roopam Duvesh - College Station Medical Center
Li Jia Chen - Chinese University of Hong Kong
Zheng Li - Genome Institute of Singapore
Monisha E. Nongpiur - Singapore National Eye Center
Shamira A. Perera - Singapore Eye Research Institute
Chunyan Qiao - Beijing Tongren Hospital
Hon-Tym Wong - Tan Tock Seng Hospital
Hiroshi Sakai - University of the Ryukyus
Monica Barbosa de Melo - Universidade Estadual de Campinas (UNICAMP)
Mei-Chin Lee - Singapore National Eye Center
Anita S. Chan - Singapore National Eye Center
Yaakub Azhany - Supreme Council Of Health
Thi Lam Huong Dao - National Hospital of Pediatrics
Yoko Ikeda - Kyoto Prefectural University of Medicine
Rodolfo A. Perez-Grossmann - Inst Glaucoma Catarata, Lima, Peru
Tomasz Zarnowski - Medical University of Lublin
Alexander C. Day - Moorfields Eye Hospital NHS Foundation Trust
Jost B. Jonas - Heidelberg University
Pancy O. S. Tam - Chinese University of Hong Kong
Tuan Anh Tran - HCMC Hospital of Dermato Venereology
Humaira Ayub - COMSATS University Islamabad
Farah Akhtar - Al Shifa Trust Eye Hosp, Pakistan Inst Ophthalmol, Rawalpindi, Pakistan
Shazia Micheal - Radboud University Medical Center
Paul T. K. Chew - Supreme Council Of Health
Leyla A. Aljasim - King Khaled Eye Specialist Hospital
Tanuj Dada - All India Institute of Medical Sciences
Tam Thi Luu - Da Nang Hospital
Mona S. Awadalla - Flinders Medical Centre
Naris Kitnarong - Siriraj Hospital
Boonsong Wanichwecharungruang - Rajavithi Hospital
Yee Yee Aung - University of Medicine Mandalay
Jelinar Mohamed-Noor - Hospital Kuala Lumpur
Saravanan Vijayan - College Station Medical Center
Sripriya Sarangapani - Sankara Nethralaya
Rahat Husain - Singapore Eye Research Institute
Aliza Jap - Singapore National Eye Center
Mani Baskaran - Singapore National Eye Center
David Goh - Singapore National Eye Center
Daniel H. Su - Singapore National Eye Center
Huaizhou Wang - Beijing Tongren Hospital
Vernon K. Yong - Tan Tock Seng Hospital
Leonard W. Yip - Tan Tock Seng Hospital
Tuyet Bach Trinh - HCMC Hospital of Dermato Venereology
Manchima Makornwattana - Thammasat University
Thanh Thu Nguyen - Viet Tiep Gen Hosp, Eye Dept, Hai Phong, Vietnam
Edgar U. Leuenberger - Asian Eye Institute
Ki-Ho Park - Seoul National University
Widya Artini Wiyogo - University of Indonesia
Rajesh S. Kumar - Narayana Nethralaya
Celso Tello - New York Eye and Ear Infirmary
Yasuo Kurimoto - Kobe City Medical Center General Hospital
Suman S. Thapa - Tilganga Institute of Ophthalmology
Kessara Pathanapitoon - Chiang Mai University
John F. Salmon - John Radcliffe Hospital
Yong Ho Sohn - Kim's Eye Hospital
Antonio Fea - University of Turin
Mineo Ozaki - Miyata Eye Hospital
Jimmy S. M. Lai - Chinese University of Hong Kong
Visanee Tantisevi - Chulalongkorn University
Chaw Chaw Khaing - East Yangon General Hospital
Takanori Mizoguchi - Mizoguchi Eye Hosp, Sasebo, Japan
Satoko Nakano - Oita University
Chan-Yun Kim - Yonsei University
Guangxian Tang - First Hospital of Shijiazhuang
Sujie Fan - Han Dan City Eye Hospital - The Third Hospital of Handan
Renyi Wu - Xiamen University
Hailin Meng - Anyang Eye Hosp, Anyang, Peoples R China
Thi Thuy Giang Nguyen - National Hospital of Pediatrics
Tien Dat Tran - Vietnam Natl Inst Ophthalmol, Hanoi, Vietnam
Morio Ueno - Kyoto Prefectural University
Jose Maria Martinez - Pasig City Gen Hosp, Dept Ophthalmol, Pasig, Philippines
Norlina Ramli - University of Malaya
Yin Mon Aung - Pun Hlaing Silom Hosp, Myanmar Eye Ctr, Yangon, Myanmar
Rigo Daniel Reyes - Asian Hospital and Medical Center
Sephen A. Vernon - University of Nottingham
Seng Kheong Fang - Int Specialist Eye Ctr, Kuala Lumpur, Malaysia
Zhicheng Xie - Genome Institute of Singapore
Xiao Yin Chen - Genome Institute of Singapore
Jia Nee Foo - Genome Institute of Singapore
Kar Seng Sim - Genome Institute of Singapore
Tina T. Wong - Singapore National Eye Center
Desmond T. Quek - Singapore National Eye Center
Rengaraj Venkatesh - Aravind Eye Hospital
Srinivasan Kavitha - Aravind Eye Hosp, Glaucoma Clin, Pondicherry, India
Subbiah R. Krishnadas - Aravind Eye Hospital
Nagaswamy Soumittra - Sankara Nethralaya
Balekudaru Shantha - Sankara Nethralaya
Boon-Ang Lim - Tan Tock Seng Hospital
Jeanne Ogle - Tan Tock Seng Hospital
Jose P. C. de Vasconcellos - Universidade Estadual de Campinas (UNICAMP)
Vital P. Costa - Aravind Eye Hospital
Ricardo Y. Abe - Aravind Eye Hospital
Bruno B. de Souza - Universidade Estadual de Campinas (UNICAMP)
Chelvin C. Sng - National University Health System
Maria C. Aquino - Supreme Council Of Health
Ewa Kosior-Jarecka - College Station Medical Center
Guillermo Barreto Fong - College Station Medical Center
Vania Castro Tamanaja - Hosp Nacl Arzobispo Loayza, Lima, Peru
Ricardo Fujita - Univ San Martin Porres, Ctr Genet & Biol Mol, Lima, Peru
Yuzhen Jiang - Moorfields Eye Hosp, NIHR Biomed Res Ctr Ophthalmol, London, England
Naushin Waseem - Moorfields Eye Hosp, NIHR Biomed Res Ctr Ophthalmol, London, England
Sancy Low - Moorfields Eye Hosp, NIHR Biomed Res Ctr Ophthalmol, London, England
Huan Nguyen Pham - Ho Chi Minh City Eye Hosp, Ho Chi Minh City, Vietnam
Sami Al-Shahwan - King Khalid Eye Specialist Hosp, Riyadh, Saudi Arabia
E. Randy Craven - King Khalid Eye Specialist Hosp, Riyadh, Saudi Arabia
Muhammad Imran Khan - Radboud University Nijmegen
Rrima Dada - College Station Medical Center
Kuldeep Mohanty - College Station Medical Center
Muneeb A. Faiq - College Station Medical Center
Alex W. Hewitt - University of Tasmania
Kathryn P. Burdon - Flinders University
Eng Hui Gan - Hosp Kuala Lumpur, Dept Ophthalmol, Kuala Lumpur, Malaysia
Anuwat Prutthipongsit - Thammasat University
Thipnapa Patthanathamrongkasem - Thammasat University
Mary Ann T. Catacutan - Asian Eye Institute
Irene R. Felarca - Asian Eye Institute
Chona S. Liao - Asian Eye Institute
Emma Rusmayani - Jakarta Eye Ctr, Glaucoma Serv, Jakarta, Indonesia
Vira Wardhana Istiantoro - Jakarta Eye Ctr, Glaucoma Serv, Jakarta, Indonesia
Giulia Consolandi - University of Turin
Giulia Pignata - University of Turin
Carlo Lavia - University of Turin
Prin Rojanapongpun - Chulalongkorn University
Lerprat Mangkornkanokpong - Mécanique et Engrenage Moderne
Sunee Chansangpetch - Mécanique et Engrenage Moderne
Jonathan C. H. Chan - Queen Mary Hosp, Dept Ophthalmol, Hong Kong, Hong Kong, Peoples R China
Bonnie N. K. Choy - University of Hong Kong
Jennifer W. H. Shum - University of Hong Kong
Hlaing May Than - North Okkalarpa Gen Hosp, Dept Ophthalmol, Yangon, Myanmar
Khin Thida Oo - Pun Hlaing Silom Hosp, Myanmar Eye Ctr, Yangon, Myanmar
Aye Thi Han - Pun Hlaing Silom Hosp, Myanmar Eye Ctr, Yangon, Myanmar
Victor H. Yong - Singapore Eye Research Institute
Xiao-Yu Ng - Singapore Eye Research Institute
Shuang Ru Goh - Singapore Eye Research Institute
Yaan Fun Chong - Singapore Eye Research Institute
Martin L. Hibberd - Genome Institute of Singapore
Mark Seielstad - Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA
Eileen Png - Genome Institute of Singapore
Sarah J. Dunstan - University of Oxford
Nguyen Van Vinh Chau - Hosp Trop Dis, Ho Chi Minh City, Vietnam
Jinxin Bei - Sun Yat-sen University
Yi Xin Zeng - Sun Yat-sen University
Abhilasha Karkey - University of Oxford
Buddha Basnyat - University of Oxford
Francesca Pasutto - Univ Erlangen Nurnberg FAU, Inst Human Genet, Erlangen, Germany
Daniela Paoli - Monfalcone Hosp, Dept Ophthalmol, Gorizia, Italy
Paolo Frezzotti - University of Siena
Jie Jin Wang - University of Sydney
Paul Mitchell - University of Sydney
John H. Fingert - University of Iowa
R. Rand Allingham - Singapore Eye Research Institute
Michael A. Hauser - Singapore Eye Research Institute
Soon Thye Lim - College Station Medical Center
Soo Hong Chew - Natl Univ Singapore, Dept Econ, Singapore 117548, Singapore
Richard P. Ebstein - Natl Univ Singapore, Dept Psychol, Singapore 117548, Singapore
Anavaj Sakuntabhai - Inst Pasteur, Funct Genet Infect Dis Unit, Dept Genomes & Genet, Paris, France
Kyu Hyung Park - Seoul Natl Univ, Dept Ophthalmol, Bundang Hosp, Gyeonggi, South Korea
Jeeyun Ahn - University of Seoul
Greet Boland - College Station Medical Center
Harm Snippe - College Station Medical Center
Richard Stead - University of Nottingham
Raquel Quino - College Station Medical Center
Su Nyunt Zaw - Pun Hlaing Silom Hosp, Myanmar Eye Ctr, Yangon, Myanmar
Urszula Lukasik - College Station Medical Center
Rohit Shetty - Narayana Nethralaya
Mimiwati Zahari - Univ Malaya, Eye Res Ctr, Kuala Lumpur, Malaysia
Hyoung Won Bae - Yonsei University
Nay Lin Oo - 1 Def Serv Gen Hosp, Dept Ophthalmol, Yangon, Myanmar
Toshiaki Kubota - Oita University
Anita Manassakorn - Chulalongkorn University
Wing Lau Ho - Mécanique et Engrenage Moderne
Laura Dallorto - University of Turin
Young Hoon Hwang - Konyang University
Christine A. Kiire - University of Oxford
Masako Kuroda - College Station Medical Center
Zeiras Eka Djamal - Jakarta Eye Ctr, Glaucoma Serv, Jakarta, Indonesia
Jovell Ian M. Peregrino - Asian Eye Institute
Arkasubhra Ghosh - Narayana Nethralaya
Jin Wook Jeoung - College Station Medical Center
Tung S. Hoan - Viet Tiep Gen Hosp, Eye Dept, Hai Phong, Vietnam
Nuttamon Srisamran - Thammasat University
Thayanithi Sandragasu - Hosp Kuala Lumpur, Dept Ophthalmol, Kuala Lumpur, Malaysia
Saw Htoo Set - College Station Medical Center
Vi Huyen Doan - Nang Eye Hosp, Dept Glaucoma, Da Nang City, Vietnam
Shomi S. Bhattacharya - UCL Inst Ophthalmol, Div Genet, London, England
Ching-Lin Ho - Singapore Eye Research Institute
Donald T. Tan - Singapore Eye Research Institute
Ramanjit Sihota - College Station Medical Center
Seng-Chee Loon - Supreme Council Of Health
Kazuhiko Mori - Kyoto Prefectural University
Shigeru Kinoshita - Kyoto Prefectural University
Anneke I. den Hollander - Radboud University Nijmegen
Raheel Qamar - COMSATS Inst Informat Technol, Dept Biosci, Islamabad, Pakistan
Ya-Xing Wang - College Station Medical Center
Yik Y. Teo - Genome Institute of Singapore
E-Shyong Tai - Supreme Council Of Health
Curt Hartleben-Matkin - Inst Ophthalmol Conde de Valenciana, Dept Glaucoma, Mexico City, DF, Mexico
David Lozano-Giral - Inst Ophthalmol Conde de Valenciana, Dept Genet, Mexico City, DF, Mexico
Seang Mei Saw - Singapore Eye Research Institute
Ching-Yu Cheng - Singapore Eye Research Institute
Juan C. Zenteno - Inst Ophthalmol Conde de Valenciana, Dept Genet, Mexico City, DF, Mexico
Chi Pui Pang - Chinese University of Hong Kong
Huong T. T. Bui - Ho Chi Minh City Eye Hosp, Ho Chi Minh City, Vietnam
Owen Hee - NHG Eye Inst, Tan Tock Seng Hosp, Dept Ophthalmol, Singapore, Singapore
Jamie E. Craig - Flinders University
Deepak P. Edward - King Khalid Eye Specialist Hosp, Riyadh, Saudi Arabia
Michiko Yonahara - University of the Ryukyus
Jamil Miguel Neto - College Station Medical Center
Maria L. Guevara-Fujita - Univ San Martin Porres, Ctr Genet & Biol Mol, Lima, Peru
Liang Xu - College Station Medical Center
Robert Ritch - New York Eye & Ear Infirm Mt Sinai, Einhorn Clin Res Ctr, New York, NY USA
Ahmad Tajudin Liza-Sharmini - Supreme Council Of Health
Tien Y. Wong - Singapore Eye Research Institute
Saleh Al-Obeidan - King Saud University
Nhu Hon Do - Vietnam Natl Inst Ophthalmol, Hanoi, Vietnam
Periasamy Sundaresan - College Station Medical Center
Clement C. Tham - Chinese University of Hong Kong
Paul J. Foster - Moorfields Eye Hosp, NIHR Biomed Res Ctr Ophthalmol, London, England
Lingam Vijaya - Singapore Eye Research Institute
Kei Tashiro - Kyoto Prefectural University
Eranga N. Vithana - Singapore Eye Research Institute
Ningli Wang - College Station Medical Center
Tin Aung - Singapore Eye Research Institute
Publication Details: Nature genetics, Vol.48(5), pp.556-562
Publisher: Springer Nature
Number of pages: 9
Grant note: NMRC/TCR/008-SERI/2013 / Singapore Ministry of Health's National Medical Research Council under its Translational and Clinical Research (TCR) Flagship Programme Grant Stratified Medicine for Primary Angle Closure Glaucoma; Ministry of Health-Singapore; National Medical Research Council, Singapore 2009-1-05 / Leading Talents-High-Level Talents of the Health System of Beijing RUI 1001/PPSP/812101; RUI 1001/PPSP/812152 / Universiti Sains Malaysia NMRC/STAR/0023/2014 / Singapore Translational Research (STaR) Investigator Award Singapore Angle Closure Glaucoma Program Characterization, Prevention, and Management Biomedical Research Council; Agency for Science Technology & Research (A*STAR) Agency for Science, Technology and Research (A-STAR), Singapore; Agency for Science Technology & Research (A*STAR) CL-2013-18-012 / National Institute for Health Research; National Institute for Health Research (NIHR) Program of Beijing Scholars 81570837 / National Natural Science Foundation of China; National Natural Science Foundation of China (NSFC) 2011ZX09302-007-05 / National Major Scientific and Technological Special Project for 'Significant New Drugs Development' MR/K006584/1 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC); European Commission
Identifiers: 9949674908331
Academic Unit: King Saud University
Language: English
Resource Type: Journal article