Produção Nacional
Revisado por pares
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
2016; Nature Portfolio; Volume: 48; Issue: 5 Linguagem: Inglês
10.1038/ng.3540
ISSN1546-1718
AutoresChiea Chuen Khor, Tan Do, Hongyan Jia, Masakazu Nakano, Ronnie George, Khaled K. Abu‐Amero, Roopam Duvesh, Li Jia Chen, Zheng Li, Monisha E. Nongpiur, Shamira Perera, Chunyan Qiao, Hon‐Tym Wong, Hiroshi Sakai, Mônica Barbosa de Melo, Mei Lee, Anita Sook Yee Chan, Azhany Yaakub, Thi Lam Huong Dao, Yoko Ikeda, Rodolfo A. Perez-Grossmann, Tomasz Żarnowski, Alexander 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, Saravanan Vijayan, Sripriya Sarangapani, Rahat Husain, Aliza Jap, Mani Baskaran, David Goh, Daniel Su, Huaizhou Wang, Vernon K. Yong, Leonard Wei Leon 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, Yongho Sohn, Antonio Maria Fea, Mineo Ozaki, Jimmy S.M. Lai, Visanee Tantisevi, Chaw Chaw Khaing, Takanori Mizoguchi, S Nakano, Chan-Yun Kim, Guangxian Tang, Sujie Fan, Renyi Wu, Hailin Meng, Thi Thuy Giang Nguyen, Dat T. Tran, Morio 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, Srinivasan Kavitha, 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 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 Nga Kwan 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 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, Sandragasu Thayanithi, Saw Htoo Set, Vi Huyen Doan, Shomi S. Bhattacharya, Ching‐Lin Ho, Donald Tan, Ramanjit Sihota, Seng‐Chee Loon, Kazuhiko Mori, Shigeru Kinoshita, Anneke I. den Hollander, Raheel Qamar, Ya Xing 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 L. Guevara, 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, Ningli Wang, Tin Aung,
Tópico(s)Retinal Diseases and Treatments
ResumoPrimary 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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