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DOI: 10.1038/ng.3540
¤ OpenAccess: Green
This work has “Green” OA status. This means it may cost money to access on the publisher landing page, but there is a free copy in an OA repository.
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
Chiea Chuen Khor,Tan D,Jia Huang,Masakazu Nakano,Ronnie George,Khaled K. 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 Chan,Azhany Yaakub,Thi Lam Huong Dao,Yoko Ikeda,Rodolfo A. Perez-Grossmann,Tomasz Żarnowski,Alexander C Day,Jost B. Jonas,Pancy O. S. Tam,Tuan Anh Tran,Humaira Ayub,Farah Akhtar,Shazia Micheal,Paul Chew,Leyla Ali Aljasim,Tanuj Dada,Tam Thi Luu,Mona S Awadalla,Naris Kitnarong,Boonsong Wanichwecharungruang,Yee Yee Aung,Jelinar Mohamed-Noor,Vadivelu Saravanan,Sarangapani Sripriya,Rahat Husain,Aliza Jap,Mani Baskaran,David Goh,Daniel 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 Thapa,Kessara Pathanapitoon,John F. Salmon,Yong Ho Sohn,Antonio Fea,Mineo Ozaki,Jimmy S. M. Lai,Visanee Tantisevi,Chaw Chaw Khaing,Takanori Mizoguchi,Susumu Nakano,Chan-Yun Kim,Guangxian Tang,Sujie Fan,Renyi Wu,Hua Meng,Thi Thuy Giang Nguyen,Dat T. Tran,Masaki Ueno,Jose Maria D. Martinez,Norlina Ramli,Yin Mon Aung,Rigo Daniel Reyes,S A Vernon,Seng Kheong Fang,Zhicheng Xie,Xiao Yin Chen,Jia Nee Foo,Kar Seng Sim,Tina Wong,Desmond Quek,Rengaraj Venkatesh,Kavitha Srinivasan,Subbiah R. Krishnadas,Nagaswamy Soumittra,Shantha Balekudaru,Boon-Ang Lim,Jeanne J Ogle,José Paulo Cabral de Vasconcellos,Vital Paulino Costa,Ricardo Y. Abe,Bruno Batista de Souza,Chelvin C. A. Sng,Maria Cecilia 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 Ch Chan,Bonnie Choy,Jennifer Shum,Hlaing May Than,Khin Thida Oo,Aye Thi Han,Victor H. K. Yong,Xiao-Yu Ng,Shuang Ru Goh,Yaan Fun Chong,Martin L. Hibberd,Mark Seielstad,Eileen Png,Sarah J. Dunstan,Nguyễn Văn Vĩnh Châu,Jin‐Xin 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 J. Boland,H. Snippe,Richard Stead,Raquel Quino,Su Nyunt Zaw,Urszula Łukasik,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,Siladitya Bhattacharya,Ching-Lin Ho,Donald Tan,Ramanjit Sihota,Seng-Chee Loon,Kazuhiko Mori,Shigeru Kinoshita,Anneke I. den Hollander,Raheel Qamar,Yaxing Wang,Yik Ying Teo,E. Shyong Tai,Curt Hartleben-Matkin,David Lozano-Giral,Seang Mei Saw,Ching‐Yu Cheng,Juan Carlos Zenteno,Chi Pui Pang,Huong T T Bui,Owen Kim Hee,Jamie E Craig,Deepak P. Edward,Michiko Yonahara,Jamil Miguel Neto,María Luisa Guevara-Fujita,Liang Xu,Robert Ritch,Ahmad Tajudin Liza-Sharmini,Tien Yin Wong,Saleh A. Al-Obeidan,Nhu Hon,Periasamy Sundaresan,Clement C. Tham,Paul J. Foster,Lingam Vijaya,Kei Tashiro,Eranga N. Vithana,Ke Wang,Tin Aung
Genome-wide association study
Biology
Odds ratio
2016
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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“Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma” is a paper by Chiea Chuen Khor Tan D Jia Huang Masakazu Nakano Ronnie George Khaled K. 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 Chan Azhany Yaakub Thi Lam Huong Dao Yoko Ikeda Rodolfo A. Perez-Grossmann Tomasz Żarnowski Alexander C Day Jost B. Jonas Pancy O. S. Tam Tuan Anh Tran Humaira Ayub Farah Akhtar Shazia Micheal Paul Chew Leyla Ali Aljasim Tanuj Dada Tam Thi Luu Mona S Awadalla Naris Kitnarong Boonsong Wanichwecharungruang Yee Yee Aung Jelinar Mohamed-Noor Vadivelu Saravanan Sarangapani Sripriya Rahat Husain Aliza Jap Mani Baskaran David Goh Daniel 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 Thapa Kessara Pathanapitoon John F. Salmon Yong Ho Sohn Antonio Fea Mineo Ozaki Jimmy S. M. Lai Visanee Tantisevi Chaw Chaw Khaing Takanori Mizoguchi Susumu Nakano Chan-Yun Kim Guangxian Tang Sujie Fan Renyi Wu Hua Meng Thi Thuy Giang Nguyen Dat T. Tran Masaki Ueno Jose Maria D. Martinez Norlina Ramli Yin Mon Aung Rigo Daniel Reyes S A Vernon Seng Kheong Fang Zhicheng Xie Xiao Yin Chen Jia Nee Foo Kar Seng Sim Tina Wong Desmond Quek Rengaraj Venkatesh Kavitha Srinivasan Subbiah R. Krishnadas Nagaswamy Soumittra Shantha Balekudaru Boon-Ang Lim Jeanne J Ogle José Paulo Cabral de Vasconcellos Vital Paulino Costa Ricardo Y. Abe Bruno Batista de Souza Chelvin C. A. Sng Maria Cecilia 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 Ch Chan Bonnie Choy Jennifer Shum Hlaing May Than Khin Thida Oo Aye Thi Han Victor H. K. Yong Xiao-Yu Ng Shuang Ru Goh Yaan Fun Chong Martin L. Hibberd Mark Seielstad Eileen Png Sarah J. Dunstan Nguyễn Văn Vĩnh Châu Jin‐Xin 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 J. Boland H. Snippe Richard Stead Raquel Quino Su Nyunt Zaw Urszula Łukasik 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 Siladitya Bhattacharya Ching-Lin Ho Donald Tan Ramanjit Sihota Seng-Chee Loon Kazuhiko Mori Shigeru Kinoshita Anneke I. den Hollander Raheel Qamar Yaxing Wang Yik Ying Teo E. Shyong Tai Curt Hartleben-Matkin David Lozano-Giral Seang Mei Saw Ching‐Yu Cheng Juan Carlos Zenteno Chi Pui Pang Huong T T Bui Owen Kim Hee Jamie E Craig Deepak P. Edward Michiko Yonahara Jamil Miguel Neto María Luisa Guevara-Fujita Liang Xu Robert Ritch Ahmad Tajudin Liza-Sharmini Tien Yin Wong Saleh A. Al-Obeidan Nhu Hon Periasamy Sundaresan Clement C. Tham Paul J. Foster Lingam Vijaya Kei Tashiro Eranga N. Vithana Ke Wang Tin Aung published in 2016. It has an Open Access status of “green”. You can read and download a PDF Full Text of this paper here.