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

Chiea Khor, Tan Do, Hongyan Jia, Masakazu Nakano, Ronnie George, Khalid Abu-Amero, Roopam Duvesh, Li Chen, Zheng Li, Monisha Nongpiur, Shamira Perera, Chunyan Qiao, Hon-Tym Wong, Hiroshi Sakai, Monica de Melo, Mei Lee, Anita Chan, Azhany Yakub, Thi Dao, Yoko IkedaRodolfo Perez-Grossmann, Tomasz Zarnowski, Alex Day, Jost Jonas, Pancy Tam, Tuan Tran, Humaira Ayub, Farah Akhtar, Shazia Michael, Paul Chew, Leyla Aljasim, Tanuj Dada, Tam Luu, Mona Awadalla, Naris Kitnarong, Boonsong Wanichwecharungruang, Yee Yee Aung, Jelinar Mohamed-Noor, Saravanan Vijayan, Sarangapani Sripriya, Rahat Husain, Aliza Jap, Baskaran Mani, David Goh, Daniel Su, Huaizhou Wang, Vernon Yong, Leonard Yip, Tuyet Trinh, Manchima Makornwattana, Thanh Nguyen, Edgar Leuenberger, Ki-Ho Park, Widya Wiyogo, Rajesh Kumar, Celso Tello, Yasuo Kurimoto, Suman Thapa, Kessara Pathanapitoon, John Salmon, Yong Ho Sohn, Antonio Fea, Ozaki Mineo, Jimmy Lai, Visanee Tantisevi, Chaw Chaw Khaing, Takanori Mizoguchi, Satoko Nakano, Chan-Yun Kim, Guangxian Tang, Sujie Fan, Renyi Wu, Hailin Meng, Thi Nguyen, Tien Tran, Morio Ueno, Jose Martinez, Norlina Ramli, Yin Aung, Rigo Reyes, Stephen Vernon, Seng Fang, Zhicheng Xie, Xiao Chen, Kar-Seng Sim, Tina Wong, Desmond Quek, Rangaraj Venkatesh, Srinivasan Kavitha, Subbaiah Krishnadas, Nagaswamy Soumittra, Balekudaru Shantha, Boon-Ang Lim, Jeanne Ogle, Jose de Vasconcellos, Vital Costa, Ricardo Abe, Bruno de Souza, Chelvin Sng, Maria Aquino, Ewa Kosior-Jarecka, Guillermo Fong, Vania Tamanaja, Ricardo Fujita, Yuzhen Jiang, Naushin Waseem, Sancy Low, Huan Pham, Sami Al Shahwan, E Craven, Muhammad Khan, Rrima Dada, Kuldeep Mohanty, Muneeb Faiq, Alex Hewitt, Kathryn Burdon, Eng Gan, Anuwat Prutthipongsit, Thipnapa Patthanathamrongkasem, Mary Ann Catacutan, Irene Felarca, Chona Liao, Emma Rusmayani, Vira Istiantoro, Giulia Consolandi, Giulia Pignata, Carlo Lavia, Prin Rojanapongpun, Lerprat Mangkornkanokpong, Sunee Chansangpetch, Jonathon Chan, Bonnie Choy, Jennifer Shum, Hlaing Than, Khin Oo, Aye Han, Victor Yong, Xiao Ng, Shuang Goh, Yaan Chong, Martin Hibberd, Mark Seielstad, Eileen Png, Sarah Dunstan, Nguyen van Vinh Chau, Jin-Xin Bei, Yi-Xin Zeng, Abhilasha Karkey, Buddha Basnyat, Francesca Pasutto, Daniela Paoli, Paolo Frezzotti, Jie Wang, Paul Mitchell, John Fingert, R Allingham, Michael Hauser, Soon Lim, Soo Chew, Richard Ebstein, Anavaj Sakuntabhai, Kyu Park, Jeeyun Ahn, Greet Boland, Harm Snippe, Richard Stead, Raquel Quino, Su Zaw, Urszula Lukasik, Rohit Shetty, Mimiwati Zahari, Hyoung Bae, Nay Lin Oo, Toshiaki Kubota, Anita Manassakorn, Wing Ho, Laura Dallorto, Young Hwang, Christine Kiire, Masako Kuroda, Zeiras Djamal, Jovell Peregrino, Arkasubhra Ghosh, Jin Jeoung, Tung Hoang, Nuttamon Srisamran, Thayanithi Sandragasu, Saw Set, Vi Doan, Shomi Bhattacharya, Ching-Lin Ho, Donald Tan, Ramanjit Sihota, Seng-Chee Loon, Kazuhiko Mori, Shigeru Kinoshita, Anneke 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 Zenteno, Chi Pui Pang, Huong Bui, Owen Hee, Jamie Craig, Deepak Edward, Michiko Yonahara, Jamil Neto, Maria Guevara-Fujita, Liang Xu, Robert Ritch, Liza-Sharmini Tajudin, Tien Wong, Saleh Al-Obeidan, Do Hon, Periasamy Sundaresan, Clement Tham, Paul Foster, Lingam Vijaya, Kei Tashiro, Eranga Vithana, Ningli Wang, Tin Aung

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    65 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 languageEnglish
    Pages (from-to)556-562
    Number of pages7
    JournalNature Genetics
    Volume48
    Issue number5
    DOIs
    Publication statusPublished - 4 Apr 2016

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  • Cite this

    Khor, C., Do, T., Jia, H., Nakano, M., George, R., Abu-Amero, K., Duvesh, R., Chen, L., Li, Z., Nongpiur, M., Perera, S., Qiao, C., Wong, H-T., Sakai, H., de Melo, M., Lee, M., Chan, A., Yakub, A., Dao, T., ... 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