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; 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; 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; José P.Cde 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; ERandy Craven; Muhammad Imran Khan; Rrima Dada; Kuldeep Mohanty; Muneeb A. Faiq; Alex WHewitt; Kathryn P. Burdon; Eng Hui Gan; Anuwat Prutthipongsit; Thipnapa Patthanathamrongkasem; Mary Ann TCatacutan; Irene R. Felarca; Chona SLiao; 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 Czenteno; 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

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, Mônica Barbosa De Melo, Mei Chin Lee, Anita SChan, Yaakub Azhany, Thi Lam Huong Dao, Yoko IkedaRodolfo 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, 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, José P.Cde 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, ERandy Craven, Muhammad Imran Khan, Rrima Dada, Kuldeep Mohanty, Muneeb A. Faiq, Alex WHewitt, Kathryn P. Burdon, Eng Hui Gan, Anuwat Prutthipongsit, Thipnapa Patthanathamrongkasem, Mary Ann TCatacutan, Irene R. Felarca, Chona SLiao, 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 Czenteno, 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

Department of Ophthalmology

Research output: Contribution to journal › Article › peer-review

144 Citations (Scopus)

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 -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.

Original language	English
Pages (from-to)	556-562
Number of pages	7
Journal	Nature Genetics
Volume	48
Issue number	5
DOIs	https://doi.org/10.1038/ng.3540
Publication status	Published - 1 May 2016

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10.1038/ng.3540

Cite this

Khor, C. C., Do, T., Jia, H., Nakano, M., George, R., Abu-Amero, K., Duvesh, R., Chen, L. J., Li, Z., Nongpiur, M. E., Perera, S. A., Qiao, C., Wong, H. T., Sakai, H., De Melo, M. B., Lee, M. C., SChan, A., Azhany, Y., Dao, T. L. H., ... Aung, T. (2016). Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nature Genetics, 48(5), 556-562. https://doi.org/10.1038/ng.3540

@article{4575804fb6434acebb6b8c2e3c341ba6,

title = "Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma",

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 -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 {\^a}'8 for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.",

author = "Khor, {Chiea Chuen} and Tan Do and Hongyan Jia and Masakazu Nakano and Ronnie George and Khaled Abu-Amero and Roopam Duvesh and Chen, {Li Jia} and Zheng Li and Nongpiur, {Monisha E.} and Perera, {Shamira A.} and Chunyan Qiao and Wong, {Hon Tym} and Hiroshi Sakai and {De Melo}, {M{\^o}nica Barbosa} and Lee, {Mei Chin} and Anita SChan and Yaakub Azhany and Dao, {Thi Lam Huong} and Yoko Ikeda and Perez-Grossmann, {Rodolfo A.} and Tomasz Zarnowski and Day, {Alexander C.} and Jonas, {Jost B.} and Tam, {Pancy O.S.} and Tran, {Tuan Anh} and Humaira Ayub and Farah Akhtar and Shazia Micheal and Chew, {Paul T.K.} and Aljasim, {Leyla A.} and Tanuj Dada and Luu, {Tam Thi} and Awadalla, {Mona S.} and Naris Kitnarong and Boonsong Wanichwecharungruang and Aung, {Yee Yee} and Jelinar Mohamed-Noor and Saravanan Vijayan and Sripriya Sarangapani and Rahat Husain and Aliza Jap and Mani Baskaran and David Goh and Su, {Daniel H.} and Huaizhou Wang and Yong, {Vernon K.} and Yip, {Leonard W.} and Trinh, {Tuyet Bach} and Manchima Makornwattana and Nguyen, {Thanh Thu} and Leuenberger, {Edgar U.} and Park, {Ki Ho} and Wiyogo, {Widya Artini} and Rajesh SKumar and Celso Tello and Yasuo Kurimoto and Thapa, {Suman S.} and Kessara Pathanapitoon and Salmon, {John F.} and Sohn, {Yong Ho} and Antonio Fea and Mineo Ozaki and Lai, {Jimmy S.M.} and Visanee Tantisevi and Khaing, {Chaw Chaw} and Takanori Mizoguchi and Satoko Nakano and Kim, {Chan Yun} and Guangxian Tang and Sujie Fan and Renyi Wu and Hailin Meng and Nguyen, {Thi Thuy Giang} and Tran, {Tien Dat} and Morio Ueno and Martinez, {Jose Maria} and Norlina Ramli and Aung, {Yin Mon} and Reyes, {Rigo Daniel} and Vernon, {Stephen A.} and Fang, {Seng Kheong} and Zhicheng Xie and Chen, {Xiao Yin} and Foo, {Jia Nee} and Sim, {Kar Seng} and Wong, {Tina T.} and Quek, {Desmond T.} and Rengaraj Venkatesh and Srinivasan Kavitha and Krishnadas, {Subbiah R.} and Nagaswamy Soumittra and Balekudaru Shantha and Lim, {Boon Ang} and Jeanne Ogle and Vasconcellos, {Jos{\'e} P.Cde} and Costa, {Vital P.} and Abe, {Ricardo Y.} and {De Souza}, {Bruno B.} and Sng, {Chelvin C.} and Aquino, {Maria C.} and Ewa Kosior-Jarecka and Fong, {Guillermo Barreto} and Tamanaja, {Vania Castro} and Ricardo Fujita and Yuzhen Jiang and Naushin Waseem and Sancy Low and Pham, {Huan Nguyen} and Sami Al-Shahwan and ERandy Craven and Khan, {Muhammad Imran} and Rrima Dada and Kuldeep Mohanty and Faiq, {Muneeb A.} and Alex WHewitt and Burdon, {Kathryn P.} and Gan, {Eng Hui} and Anuwat Prutthipongsit and Thipnapa Patthanathamrongkasem and TCatacutan, {Mary Ann} and Felarca, {Irene R.} and Chona SLiao and Emma Rusmayani and Istiantoro, {Vira Wardhana} and Giulia Consolandi and Giulia Pignata and Carlo Lavia and Prin Rojanapongpun and Lerprat Mangkornkanokpong and Sunee Chansangpetch and Chan, {Jonathan C.H.} and Choy, {Bonnie N.K.} and Shum, {Jennifer W.H.} and Than, {Hlaing May} and Oo, {Khin Thida} and Han, {Aye Thi} and Yong, {Victor H.} and Ng, {Xiao Yu} and Goh, {Shuang Ru} and Chong, {Yaan Fun} and Hibberd, {Martin L.} and Mark Seielstad and Eileen Png and Dunstan, {Sarah J.} and {Van Vinh Chau}, Nguyen and Jinxin Bei and Zeng, {Yi Xin} and Abhilasha Karkey and Buddha Basnyat and Francesca Pasutto and Daniela Paoli and Paolo Frezzotti and Wang, {Jie Jin} and Paul Mitchell and Fingert, {John H.} and Allingham, {R. Rand} and Hauser, {Michael A.} and Lim, {Soon Thye} and Chew, {Soo Hong} and Ebstein, {Richard P.} and Anavaj Sakuntabhai and Park, {Kyu Hyung} and Jeeyun Ahn and Greet Boland and Harm Snippe and Richard Stead and Raquel Quino and Zaw, {Su Nyunt} and Urszula Lukasik and Rohit Shetty and Mimiwati Zahari and Bae, {Hyoung Won} and Oo, {Nay Lin} and Toshiaki Kubota and Anita Manassakorn and Ho, {Wing Lau} and Laura Dallorto and Hwang, {Young Hoon} and Kiire, {Christine A.} and Masako Kuroda and Djamal, {Zeiras Eka} and Peregrino, {Jovell Ian M.} and Arkasubhra Ghosh and Jeoung, {Jin Wook} and Hoan, {Tung S.} and Nuttamon Srisamran and Thayanithi Sandragasu and Set, {Saw Htoo} and Doan, {Vi Huyen} and Bhattacharya, {Shomi S.} and Ho, {Ching Lin} and Tan, {Donald T.} and Ramanjit Sihota and Loon, {Seng Chee} and Kazuhiko Mori and Shigeru Kinoshita and {Den Hollander}, {Anneke I.} and Raheel Qamar and Wang, {Ya Xing} and Teo, {Yik Y.} and Tai, {E. Shyong} and Curt Hartleben-Matkin and David Lozano-Giral and Saw, {Seang Mei} and Cheng, {Ching Yu} and Juan Czenteno and Pang, {Chi Pui} and Bui, {Huong T.T.} and Owen Hee and Craig, {Jamie E.} and Edward, {Deepak P.} and Michiko Yonahara and Neto, {Jamil Miguel} and Guevara-Fujita, {Maria L.} and Liang Xu and Robert Ritch and Liza-Sharmini, {Ahmad Tajudin} and Wong, {Tien Y.} and Saleh Al-Obeidan and Do, {Nhu Hon} and Periasamy Sundaresan and Tham, {Clement C.} and Foster, {Paul J.} and Lingam Vijaya and Kei Tashiro and Vithana, {Eranga N.} and Ningli Wang and Tin Aung",

note = "Publisher Copyright: {\textcopyright} 2016 Nature America, Inc.",

year = "2016",

month = may,

day = "1",

doi = "10.1038/ng.3540",

language = "English",

volume = "48",

pages = "556--562",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "5",

}

Khor, CC, Do, T, Jia, H, Nakano, M, George, R, Abu-Amero, K, Duvesh, R, Chen, LJ, Li, Z, Nongpiur, ME, Perera, SA, Qiao, C, Wong, HT, Sakai, H, De Melo, MB, Lee, MC, SChan, A, Azhany, Y, Dao, TLH, Ikeda, Y, Perez-Grossmann, RA, Zarnowski, T, Day, AC, Jonas, JB, Tam, POS, Tran, TA, Ayub, H, Akhtar, F, Micheal, S, Chew, PTK, Aljasim, LA, Dada, T, Luu, TT, Awadalla, MS, Kitnarong, N, Wanichwecharungruang, B, Aung, YY, Mohamed-Noor, J, Vijayan, S, Sarangapani, S, Husain, R, Jap, A, Baskaran, M, Goh, D, Su, DH, Wang, H, Yong, VK, Yip, LW, Trinh, TB, Makornwattana, M, Nguyen, TT, Leuenberger, EU, Park, KH, Wiyogo, WA, SKumar, R, Tello, C, Kurimoto, Y, Thapa, SS, Pathanapitoon, K, Salmon, JF, Sohn, YH, Fea, A, Ozaki, M, Lai, JSM, Tantisevi, V, Khaing, CC, Mizoguchi, T, Nakano, S, Kim, CY, Tang, G, Fan, S, Wu, R, Meng, H, Nguyen, TTG, Tran, TD, Ueno, M, Martinez, JM, Ramli, N, Aung, YM, Reyes, RD, Vernon, SA, Fang, SK, Xie, Z, Chen, XY, Foo, JN, Sim, KS, Wong, TT, Quek, DT, Venkatesh, R, Kavitha, S, Krishnadas, SR, Soumittra, N, Shantha, B, Lim, BA, Ogle, J, Vasconcellos, JPC, Costa, VP, Abe, RY, De Souza, BB, Sng, CC, Aquino, MC, Kosior-Jarecka, E, Fong, GB, Tamanaja, VC, Fujita, R, Jiang, Y, Waseem, N, Low, S, Pham, HN, Al-Shahwan, S, Craven, ER, Khan, MI, Dada, R, Mohanty, K, Faiq, MA, WHewitt, A, Burdon, KP, Gan, EH, Prutthipongsit, A, Patthanathamrongkasem, T, TCatacutan, MA, Felarca, IR, SLiao, C, Rusmayani, E, Istiantoro, VW, Consolandi, G, Pignata, G, Lavia, C, Rojanapongpun, P, Mangkornkanokpong, L, Chansangpetch, S, Chan, JCH, Choy, BNK, Shum, JWH, Than, HM, Oo, KT, Han, AT, Yong, VH, Ng, XY, Goh, SR, Chong, YF, Hibberd, ML, Seielstad, M, Png, E, Dunstan, SJ, Van Vinh Chau, N, Bei, J, Zeng, YX, Karkey, A, Basnyat, B, Pasutto, F, Paoli, D, Frezzotti, P, Wang, JJ, Mitchell, P, Fingert, JH, Allingham, RR, Hauser, MA, Lim, ST, Chew, SH, Ebstein, RP, Sakuntabhai, A, Park, KH, Ahn, J, Boland, G, Snippe, H, Stead, R, Quino, R, Zaw, SN, Lukasik, U, Shetty, R, Zahari, M, Bae, HW, Oo, NL, Kubota, T, Manassakorn, A, Ho, WL, Dallorto, L, Hwang, YH, Kiire, CA, Kuroda, M, Djamal, ZE, Peregrino, JIM, Ghosh, A, Jeoung, JW, Hoan, TS, Srisamran, N, Sandragasu, T, Set, SH, Doan, VH, Bhattacharya, SS, Ho, CL, Tan, DT, Sihota, R, Loon, SC, Mori, K, Kinoshita, S, Den Hollander, AI, Qamar, R, Wang, YX, Teo, YY, Tai, ES, Hartleben-Matkin, C, Lozano-Giral, D, Saw, SM, Cheng, CY, Czenteno, J, Pang, CP, Bui, HTT, Hee, O, Craig, JE, Edward, DP, Yonahara, M, Neto, JM, Guevara-Fujita, ML, Xu, L, Ritch, R, Liza-Sharmini, AT, Wong, TY, Al-Obeidan, S, Do, NH, Sundaresan, P, Tham, CC, Foster, PJ, Vijaya, L, Tashiro, K, Vithana, EN, Wang, N & Aung, T 2016, 'Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma', Nature Genetics, vol. 48, no. 5, pp. 556-562. https://doi.org/10.1038/ng.3540

TY - JOUR

T1 - Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

AU - Khor, Chiea Chuen

AU - Do, Tan

AU - Jia, Hongyan

AU - Nakano, Masakazu

AU - George, Ronnie

AU - Abu-Amero, Khaled

AU - Duvesh, Roopam

AU - Chen, Li Jia

AU - Li, Zheng

AU - Nongpiur, Monisha E.

AU - Perera, Shamira A.

AU - Qiao, Chunyan

AU - Wong, Hon Tym

AU - Sakai, Hiroshi

AU - De Melo, Mônica Barbosa

AU - Lee, Mei Chin

AU - SChan, Anita

AU - Azhany, Yaakub

AU - Dao, Thi Lam Huong

AU - Ikeda, Yoko

AU - Perez-Grossmann, Rodolfo A.

AU - Zarnowski, Tomasz

AU - Day, Alexander C.

AU - Jonas, Jost B.

AU - Tam, Pancy O.S.

AU - Tran, Tuan Anh

AU - Ayub, Humaira

AU - Akhtar, Farah

AU - Micheal, Shazia

AU - Chew, Paul T.K.

AU - Aljasim, Leyla A.

AU - Dada, Tanuj

AU - Luu, Tam Thi

AU - Awadalla, Mona S.

AU - Kitnarong, Naris

AU - Wanichwecharungruang, Boonsong

AU - Aung, Yee Yee

AU - Mohamed-Noor, Jelinar

AU - Vijayan, Saravanan

AU - Sarangapani, Sripriya

AU - Husain, Rahat

AU - Jap, Aliza

AU - Baskaran, Mani

AU - Goh, David

AU - Su, Daniel H.

AU - Wang, Huaizhou

AU - Yong, Vernon K.

AU - Yip, Leonard W.

AU - Trinh, Tuyet Bach

AU - Makornwattana, Manchima

AU - Nguyen, Thanh Thu

AU - Leuenberger, Edgar U.

AU - Park, Ki Ho

AU - Wiyogo, Widya Artini

AU - SKumar, Rajesh

AU - Tello, Celso

AU - Kurimoto, Yasuo

AU - Thapa, Suman S.

AU - Pathanapitoon, Kessara

AU - Salmon, John F.

AU - Sohn, Yong Ho

AU - Fea, Antonio

AU - Ozaki, Mineo

AU - Lai, Jimmy S.M.

AU - Tantisevi, Visanee

AU - Khaing, Chaw Chaw

AU - Mizoguchi, Takanori

AU - Nakano, Satoko

AU - Kim, Chan Yun

AU - Tang, Guangxian

AU - Fan, Sujie

AU - Wu, Renyi

AU - Meng, Hailin

AU - Nguyen, Thi Thuy Giang

AU - Tran, Tien Dat

AU - Ueno, Morio

AU - Martinez, Jose Maria

AU - Ramli, Norlina

AU - Aung, Yin Mon

AU - Reyes, Rigo Daniel

AU - Vernon, Stephen A.

AU - Fang, Seng Kheong

AU - Xie, Zhicheng

AU - Chen, Xiao Yin

AU - Foo, Jia Nee

AU - Sim, Kar Seng

AU - Wong, Tina T.

AU - Quek, Desmond T.

AU - Venkatesh, Rengaraj

AU - Kavitha, Srinivasan

AU - Krishnadas, Subbiah R.

AU - Soumittra, Nagaswamy

AU - Shantha, Balekudaru

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AU - Aung, Tin

PY - 2016/5/1

Y1 - 2016/5/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84963502585&partnerID=8YFLogxK

U2 - 10.1038/ng.3540

DO - 10.1038/ng.3540

M3 - Article

C2 - 27064256

AN - SCOPUS:84963502585

SN - 1061-4036

VL - 48

SP - 556

EP - 562

JO - Nature Genetics

JF - Nature Genetics

IS - 5

ER -

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

Abstract

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