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

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

Nature genetics (2016-04-12)
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 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, 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 C de Vasconcellos, Vital P Costa, Ricardo Y Abe, Bruno B de Souza, Chelvin C Sng
PMID27064256
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(-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.