Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.
Khor Chiea Chuen, Do Tan, Jia Hongyan, Nakano Masakazu, George Ronnie, Abu-Amero Khaled, Duvesh Roopam, Chen Li Jia, Li Zheng, Nongpiur Monisha E, Perera Shamira A, Qiao Chunyan, Wong Hon-Tym, Sakai Hiroshi, Barbosa de Melo Mônica, Lee Mei-Chin, Chan Anita S, Azhany Yaakub, Dao Thi Lam Huong, Ikeda Yoko, Perez-Grossmann Rodolfo A, Zarnowski Tomasz, Day Alexander C, Jonas Jost B, Tam Pancy O S, Tran Tuan Anh, Ayub Humaira, Akhtar Farah, Micheal Shazia, Chew Paul T K, Aljasim Leyla A, Dada Tanuj, Luu Tam Thi, Awadalla Mona S, Kitnarong Naris, Wanichwecharungruang Boonsong, Aung Yee Yee, Mohamed-Noor Jelinar, Vijayan Saravanan, Sarangapani Sripriya, Husain Rahat, Jap Aliza, Baskaran Mani, Goh David, Su Daniel H, Wang Huaizhou, Yong Vernon K, Yip Leonard W, Trinh Tuyet Bach, Makornwattana Manchima, Nguyen Thanh Thu, Leuenberger Edgar U, Park Ki-Ho, Wiyogo Widya Artini, Kumar Rajesh S, Tello Celso, Kurimoto Yasuo, Thapa Suman S, Pathanapitoon Kessara, Salmon John F, Sohn Yong Ho, Fea Antonio, Ozaki Mineo, Lai Jimmy S M, Tantisevi Visanee, Khaing Chaw Chaw, Mizoguchi Takanori, Nakano Satoko, Kim Chan-Yun, Tang Guangxian, Fan Sujie, Wu Renyi, Meng Hailin, Nguyen Thi Thuy Giang, Tran Tien Dat, Ueno Morio, Martinez Jose Maria, Ramli Norlina, Aung Yin Mon, Reyes Rigo Daniel, Vernon Stephen A, Fang Seng Kheong, Xie Zhicheng, Chen Xiao Yin, Foo Jia Nee, Sim Kar Seng, Wong Tina T, Quek Desmond T, Venkatesh Rengaraj, Kavitha Srinivasan, Krishnadas Subbiah R, Soumittra Nagaswamy, Shantha Balekudaru, Lim Boon-Ang, Ogle Jeanne, de Vasconcellos José P C, Costa Vital P, Abe Ricardo Y, de Souza Bruno B, Sng Chelvin C, Aquino Maria C, Kosior-Jarecka Ewa, Fong Guillermo Barreto, Tamanaja Vania Castro, Fujita Ricardo, Jiang Yuzhen, Waseem Naushin, Low Sancy, Pham Huan Nguyen, Al-Shahwan Sami, Craven E Randy, Khan Muhammad Imran, Dada Rrima, Mohanty Kuldeep, Faiq Muneeb A, Hewitt Alex W, Burdon Kathryn P, Gan Eng Hui, Prutthipongsit Anuwat, Patthanathamrongkasem Thipnapa, Catacutan Mary Ann T, Felarca Irene R, Liao Chona S, Rusmayani Emma, Istiantoro Vira Wardhana, Consolandi Giulia, Pignata Giulia, Lavia Carlo, Rojanapongpun Prin, Mangkornkanokpong Lerprat, Chansangpetch Sunee, Chan Jonathan C H, Choy Bonnie N K, Shum Jennifer W H, Than Hlaing May, Oo Khin Thida, Han Aye Thi, Yong Victor H, Ng Xiao-Yu, Goh Shuang Ru, Chong Yaan Fun, Hibberd Martin L, Seielstad Mark, Png Eileen, Dunstan Sarah J, Chau Nguyen Van Vinh, Bei Jinxin, Zeng Yi Xin, Karkey Abhilasha, Basnyat Buddha, Pasutto Francesca, Paoli Daniela, Frezzotti Paolo, Wang Jie Jin, Mitchell Paul, Fingert John H, Allingham R Rand, Hauser Michael A, Lim Soon Thye, Chew Soo Hong, Ebstein Richard P, Sakuntabhai Anavaj, Park Kyu Hyung, Ahn Jeeyun, Boland Greet, Snippe Harm, Stead Richard, Quino Raquel, Zaw Su Nyunt, Lukasik Urszula, Shetty Rohit, Zahari Mimiwati, Bae Hyoung Won, Oo Nay Lin, Kubota Toshiaki, Manassakorn Anita, Ho Wing Lau, Dallorto Laura, Hwang Young Hoon, Kiire Christine A, Kuroda Masako, Djamal Zeiras Eka, Peregrino Jovell Ian M, Ghosh Arkasubhra, Jeoung Jin Wook, Hoan Tung S, Srisamran Nuttamon, Sandragasu Thayanithi, Set Saw Htoo, Doan Vi Huyen, Bhattacharya Shomi S, Ho Ching-Lin, Tan Donald T, Sihota Ramanjit, Loon Seng-Chee, Mori Kazuhiko, Kinoshita Shigeru, Hollander Anneke I den, Qamar Raheel, Wang Ya-Xing, Teo Yik Y, Tai E-Shyong, Hartleben-Matkin Curt, Lozano-Giral David, Saw Seang Mei, Cheng Ching-Yu, Zenteno Juan C, Pang Chi Pui, Bui Huong T T, Hee Owen, Craig Jamie E, Edward Deepak P, Yonahara Michiko, Neto Jamil Miguel, Guevara-Fujita Maria L, Xu Liang, Ritch Robert, Liza-Sharmini Ahmad Tajudin, Wong Tien Y, Al-Obeidan Saleh, Do Nhu Hon, Sundaresan Periasamy, Tham Clement C, Foster Paul J, Vijaya Lingam, Tashiro Kei, Vithana Eranga N, Wang Ningli, Aung Tin
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Аннотация
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.
Для цитирования: Khor Chiea Chuen, Do Tan, Jia Hongyan, Nakano Masakazu, George Ronnie, Abu-Amero Khaled, Duvesh Roopam, Chen Li Jia, Li Zheng, Nongpiur Monisha E, Perera Shamira A, Qiao Chunyan, Wong Hon-Tym, Sakai Hiroshi, Barbosa de Melo Mônica, Lee Mei-Chin, Chan Anita S, Azhany Yaakub, Dao Thi Lam Huong, Ikeda Yoko, Perez-Grossmann Rodolfo A, Zarnowski Tomasz, Day Alexander C, Jonas Jost B, Tam Pancy O S, Tran Tuan Anh, Ayub Humaira, Akhtar Farah, Micheal Shazia, Chew Paul T K, Aljasim Leyla A, Dada Tanuj, Luu Tam Thi, Awadalla Mona S, Kitnarong Naris, Wanichwecharungruang Boonsong, Aung Yee Yee, Mohamed-Noor Jelinar, Vijayan Saravanan, Sarangapani Sripriya, Husain Rahat, Jap Aliza, Baskaran Mani, Goh David, Su Daniel H, Wang Huaizhou, Yong Vernon K, Yip Leonard W, Trinh Tuyet Bach, Makornwattana Manchima, Nguyen Thanh Thu, Leuenberger Edgar U, Park Ki-Ho, Wiyogo Widya Artini, Kumar Rajesh S, Tello Celso, Kurimoto Yasuo, Thapa Suman S, Pathanapitoon Kessara, Salmon John F, Sohn Yong Ho, Fea Antonio, Ozaki Mineo, Lai Jimmy S M, Tantisevi Visanee, Khaing Chaw Chaw, Mizoguchi Takanori, Nakano Satoko, Kim Chan-Yun, Tang Guangxian, Fan Sujie, Wu Renyi, Meng Hailin, Nguyen Thi Thuy Giang, Tran Tien Dat, Ueno Morio, Martinez Jose Maria, Ramli Norlina, Aung Yin Mon, Reyes Rigo Daniel, Vernon Stephen A, Fang Seng Kheong, Xie Zhicheng, Chen Xiao Yin, Foo Jia Nee, Sim Kar Seng, Wong Tina T, Quek Desmond T, Venkatesh Rengaraj, Kavitha Srinivasan, Krishnadas Subbiah R, Soumittra Nagaswamy, Shantha Balekudaru, Lim Boon-Ang, Ogle Jeanne, de Vasconcellos José P C, Costa Vital P, Abe Ricardo Y, de Souza Bruno B, Sng Chelvin C, Aquino Maria C, Kosior-Jarecka Ewa, Fong Guillermo Barreto, Tamanaja Vania Castro, Fujita Ricardo, Jiang Yuzhen, Waseem Naushin, Low Sancy, Pham Huan Nguyen, Al-Shahwan Sami, Craven E Randy, Khan Muhammad Imran, Dada Rrima, Mohanty Kuldeep, Faiq Muneeb A, Hewitt Alex W, Burdon Kathryn P, Gan Eng Hui, Prutthipongsit Anuwat, Patthanathamrongkasem Thipnapa, Catacutan Mary Ann T, Felarca Irene R, Liao Chona S, Rusmayani Emma, Istiantoro Vira Wardhana, Consolandi Giulia, Pignata Giulia, Lavia Carlo, Rojanapongpun Prin, Mangkornkanokpong Lerprat, Chansangpetch Sunee, Chan Jonathan C H, Choy Bonnie N K, Shum Jennifer W H, Than Hlaing May, Oo Khin Thida, Han Aye Thi, Yong Victor H, Ng Xiao-Yu, Goh Shuang Ru, Chong Yaan Fun, Hibberd Martin L, Seielstad Mark, Png Eileen, Dunstan Sarah J, Chau Nguyen Van Vinh, Bei Jinxin, Zeng Yi Xin, Karkey Abhilasha, Basnyat Buddha, Pasutto Francesca, Paoli Daniela, Frezzotti Paolo, Wang Jie Jin, Mitchell Paul, Fingert John H, Allingham R Rand, Hauser Michael A, Lim Soon Thye, Chew Soo Hong, Ebstein Richard P, Sakuntabhai Anavaj, Park Kyu Hyung, Ahn Jeeyun, Boland Greet, Snippe Harm, Stead Richard, Quino Raquel, Zaw Su Nyunt, Lukasik Urszula, Shetty Rohit, Zahari Mimiwati, Bae Hyoung Won, Oo Nay Lin, Kubota Toshiaki, Manassakorn Anita, Ho Wing Lau, Dallorto Laura, Hwang Young Hoon, Kiire Christine A, Kuroda Masako, Djamal Zeiras Eka, Peregrino Jovell Ian M, Ghosh Arkasubhra, Jeoung Jin Wook, Hoan Tung S, Srisamran Nuttamon, Sandragasu Thayanithi, Set Saw Htoo, Doan Vi Huyen, Bhattacharya Shomi S, Ho Ching-Lin, Tan Donald T, Sihota Ramanjit, Loon Seng-Chee, Mori Kazuhiko, Kinoshita Shigeru, Hollander Anneke I den, Qamar Raheel, Wang Ya-Xing, Teo Yik Y, Tai E-Shyong, Hartleben-Matkin Curt, Lozano-Giral David, Saw Seang Mei, Cheng Ching-Yu, Zenteno Juan C, Pang Chi Pui, Bui Huong T T, Hee Owen, Craig Jamie E, Edward Deepak P, Yonahara Michiko, Neto Jamil Miguel, Guevara-Fujita Maria L, Xu Liang, Ritch Robert, Liza-Sharmini Ahmad Tajudin, Wong Tien Y, Al-Obeidan Saleh, Do Nhu Hon, Sundaresan Periasamy, Tham Clement C, Foster Paul J, Vijaya Lingam, Tashiro Kei, Vithana Eranga N, Wang Ningli, Aung Tin. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.. Nature genetics. 2016. DOI: 10.1038/ng.3540.
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