Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
Chiea Chuen Khor, Zheng Li, Zhicheng Xie, Xiao Yin Chen, Jia Nee Foo, Kar Seng Sim, Martin L. Hibberd, Eileen Png, Yik Y. Teo, Monisha E. Nongpiur, Shamira A. Perera, Mei-Chin Lee, Anita S. Chan, Mani Baskaran, David Goh, Daniel H. Su, Tina T. Wong, Desmond T. Quek, Victor H. Yong, Xiao-Yu Ng,...
Chiea Chuen Khor, Zheng Li, Zhicheng Xie, Xiao Yin Chen, Jia Nee Foo, Kar Seng Sim, Martin L. Hibberd, Eileen Png, Yik Y. Teo, Monisha E. Nongpiur, Shamira A. Perera, Mei-Chin Lee, Anita S. Chan, Mani Baskaran, David Goh, Daniel H. Su, Tina T. Wong, Desmond T. Quek, Victor H. Yong, Xiao-Yu Ng, Shuang Ru Goh, Yaan Fun Chong, Michael A. Hauser, Ching-Lin Ho, Donald T. Tan, Seang Mei Saw, Tien Y. Wong, Eranga N. Vithana, Tan Do, Thi Lam Huong Dao, Tien Dat Nguyen Thi Thuy Giang Tran, Nhu Hon Do, Hongyan Jia, Chunyan Qiao, Huaizhou Wang, Ningli Wang, Masakazu Nakano, Kei Tashiro, Ronnie George, Balekudaru Shantha, Lingam Vijaya, Khaled Abu-Amero, Saleh Al-Obeidan, Roopam Duvesh, Saravanan Vijayan, Periasamy Sundaresan, Li Jia Chen, Pancy O. S. Tam, Chi Pui Pang, Clement C. Tham, Hon-Tym Wong, Vernon K. Yong, Leonard W. Yip, Boon-Ang Lim, Jeanne Ogle, Owen Hee, Hiroshi Sakai, Michiko Yonahara, Monica Barbosa de Melo, Bruno B. de Souza, Yaakub Azhany, Ahmad Tajudin Liza-Sharmini, Yoko Ikeda, Morio Ueno, Kazuhiko Mori, Shigeru Kinoshita, Rodolfo A. Perez-Grossmann, Tomasz Zarnowski, Ewa Kosior-Jarecka, Urszula Lukasik, Paul J. Foster, Alexander C. Day, Yuzhen Jiang, Naushin Waseem, Sancy Low, Shomi S. Bhattacharya, Jost B. Jonas, Tuan Anh Tran, Tuyet Bach Trinh, Huan Nguyen Pham, Huong T. T. Bui, Humaira Ayub, Raheel Qamar, Farah Akhtar, Shazia Micheal, Anneke I. den Hollander, Paul T. K. Chew, Chelvin C. Sng, Maria C. Aquino, Seng-Chee Loon, Ching-Yu Cheng, Tin Aung, Leyla A. Aljasim, Sami Al-Shahwan, E. Randy Craven, Deepak P. Edward, Tanuj Dada, Rrima Dada, Kuldeep Mohanty, Muneeb A. Faiq, Ramanjit Sihota, Tam Thi Luu, Vi Huyen Doan, Mona S. Awadalla, Kathryn P. Burdon, Jamie E. Craig, Naris Kitnarong, Boonsong Wanichwecharungruang, Yee Yee Aung, Saw Htoo Set, Jelinar Mohamed-Noor, Eng Hui Gan, Thayanithi Sandragasu, Sripriya Sarangapani, Nagaswamy Soumittra, Rahat Husain, Aliza Jap, Manchima Makornwattana, Anuwat Prutthipongsit, Thipnapa Patthanathamrongkasem, Nuttamon Srisamran, Thanh Thu Nguyen, Tung S. Hoan, Mary Ann T. Catacutan, Irene R. Felarca, Chona S. Liao, Jovell Ian M. Peregrino, Edgar U. Leuenberger, Ki-Ho Park, Jin Wook Jeoung, Widya Artini Wiyogo, Emma Rusmayani, Vira Wardhana Istiantoro, Zeiras Eka Djamal, Rajesh S. Kumar, Rohit Shetty, Arkasubhra Ghosh, Celso Tello, Robert Ritch, Yasuo Kurimoto, Masako Kuroda, Suman S. Thapa, Kessara Pathanapitoon, John F. Salmon, Christine A. Kiire, Yong Ho Sohn, Young Hoon Hwang, Antonio Fea, Giulia Consolandi, Giulia Pignata, Carlo Lavia, Laura Dallorto, Mineo Ozaki, Jimmy S. M. Lai, Bonnie N. K. Choy, Jennifer W. H. Shum, Visanee Tantisevi, Prin Rojanapongpun, Anita Manassakorn, Chaw Chaw Khaing, Nay Lin Oo, Takanori Mizoguchi, Satoko Nakano, Toshiaki Kubota, Chan-Yun Kim, Hyoung Won Bae, Guangxian Tang, Sujie Fan, Renyi Wu, Hailin Meng, Jose Maria Martinez, Norlina Ramli, Mimiwati Zahari, Yin Mon Aung, Su Nyunt Zaw, Khin Thida Oo, Aye Thi Han, Rigo Daniel Reyes, Raquel Quino, Richard Stead, Sephen A. Vernon, Seng Kheong Fang, Rengaraj Venkatesh, Srinivasan Kavitha, Subbiah R. Krishnadas, Vital P. Costa, Ricardo Y. Abe, Jose P. C. de Vasconcellos, Jamil Miguel Neto, Guillermo Barreto Fong, Vania Castro Tamanaja, Ricardo Fujita, Maria L. Guevara-Fujita, Muhammad Imran Khan, Alex W. Hewitt, Lerprat Mangkornkanokpong, Sunee Chansangpetch, Wing Lau Ho, Jonathan C. H. Chan, Hlaing May Than, Mark Seielstad, 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, Soon Thye Lim, Soo Hong Chew, Richard P. Ebstein, Anavaj Sakuntabhai, Kyu Hyung Park, Jeeyun Ahn, Greet Boland, Harm Snippe, Ya-Xing Wang, Liang Xu, E-Shyong Tai, Curt Hartleben-Matkin, David Lozano-Giral, Juan C. Zenteno
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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...
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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 x 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 x 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 x 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 x 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 x 10(-12)). We also confirmed significant association at three previously described loci (P < 5 x 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18)(1), providing new insights into the biology of PACG
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DOI: https://doi.org/10.1038/ng.3540
Texto completo: https://www.nature.com/articles/ng.3540
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
Chiea Chuen Khor, Zheng Li, Zhicheng Xie, Xiao Yin Chen, Jia Nee Foo, Kar Seng Sim, Martin L. Hibberd, Eileen Png, Yik Y. Teo, Monisha E. Nongpiur, Shamira A. Perera, Mei-Chin Lee, Anita S. Chan, Mani Baskaran, David Goh, Daniel H. Su, Tina T. Wong, Desmond T. Quek, Victor H. Yong, Xiao-Yu Ng,...
Chiea Chuen Khor, Zheng Li, Zhicheng Xie, Xiao Yin Chen, Jia Nee Foo, Kar Seng Sim, Martin L. Hibberd, Eileen Png, Yik Y. Teo, Monisha E. Nongpiur, Shamira A. Perera, Mei-Chin Lee, Anita S. Chan, Mani Baskaran, David Goh, Daniel H. Su, Tina T. Wong, Desmond T. Quek, Victor H. Yong, Xiao-Yu Ng, Shuang Ru Goh, Yaan Fun Chong, Michael A. Hauser, Ching-Lin Ho, Donald T. Tan, Seang Mei Saw, Tien Y. Wong, Eranga N. Vithana, Tan Do, Thi Lam Huong Dao, Tien Dat Nguyen Thi Thuy Giang Tran, Nhu Hon Do, Hongyan Jia, Chunyan Qiao, Huaizhou Wang, Ningli Wang, Masakazu Nakano, Kei Tashiro, Ronnie George, Balekudaru Shantha, Lingam Vijaya, Khaled Abu-Amero, Saleh Al-Obeidan, Roopam Duvesh, Saravanan Vijayan, Periasamy Sundaresan, Li Jia Chen, Pancy O. S. Tam, Chi Pui Pang, Clement C. Tham, Hon-Tym Wong, Vernon K. Yong, Leonard W. Yip, Boon-Ang Lim, Jeanne Ogle, Owen Hee, Hiroshi Sakai, Michiko Yonahara, Monica Barbosa de Melo, Bruno B. de Souza, Yaakub Azhany, Ahmad Tajudin Liza-Sharmini, Yoko Ikeda, Morio Ueno, Kazuhiko Mori, Shigeru Kinoshita, Rodolfo A. Perez-Grossmann, Tomasz Zarnowski, Ewa Kosior-Jarecka, Urszula Lukasik, Paul J. Foster, Alexander C. Day, Yuzhen Jiang, Naushin Waseem, Sancy Low, Shomi S. Bhattacharya, Jost B. Jonas, Tuan Anh Tran, Tuyet Bach Trinh, Huan Nguyen Pham, Huong T. T. Bui, Humaira Ayub, Raheel Qamar, Farah Akhtar, Shazia Micheal, Anneke I. den Hollander, Paul T. K. Chew, Chelvin C. Sng, Maria C. Aquino, Seng-Chee Loon, Ching-Yu Cheng, Tin Aung, Leyla A. Aljasim, Sami Al-Shahwan, E. Randy Craven, Deepak P. Edward, Tanuj Dada, Rrima Dada, Kuldeep Mohanty, Muneeb A. Faiq, Ramanjit Sihota, Tam Thi Luu, Vi Huyen Doan, Mona S. Awadalla, Kathryn P. Burdon, Jamie E. Craig, Naris Kitnarong, Boonsong Wanichwecharungruang, Yee Yee Aung, Saw Htoo Set, Jelinar Mohamed-Noor, Eng Hui Gan, Thayanithi Sandragasu, Sripriya Sarangapani, Nagaswamy Soumittra, Rahat Husain, Aliza Jap, Manchima Makornwattana, Anuwat Prutthipongsit, Thipnapa Patthanathamrongkasem, Nuttamon Srisamran, Thanh Thu Nguyen, Tung S. Hoan, Mary Ann T. Catacutan, Irene R. Felarca, Chona S. Liao, Jovell Ian M. Peregrino, Edgar U. Leuenberger, Ki-Ho Park, Jin Wook Jeoung, Widya Artini Wiyogo, Emma Rusmayani, Vira Wardhana Istiantoro, Zeiras Eka Djamal, Rajesh S. Kumar, Rohit Shetty, Arkasubhra Ghosh, Celso Tello, Robert Ritch, Yasuo Kurimoto, Masako Kuroda, Suman S. Thapa, Kessara Pathanapitoon, John F. Salmon, Christine A. Kiire, Yong Ho Sohn, Young Hoon Hwang, Antonio Fea, Giulia Consolandi, Giulia Pignata, Carlo Lavia, Laura Dallorto, Mineo Ozaki, Jimmy S. M. Lai, Bonnie N. K. Choy, Jennifer W. H. Shum, Visanee Tantisevi, Prin Rojanapongpun, Anita Manassakorn, Chaw Chaw Khaing, Nay Lin Oo, Takanori Mizoguchi, Satoko Nakano, Toshiaki Kubota, Chan-Yun Kim, Hyoung Won Bae, Guangxian Tang, Sujie Fan, Renyi Wu, Hailin Meng, Jose Maria Martinez, Norlina Ramli, Mimiwati Zahari, Yin Mon Aung, Su Nyunt Zaw, Khin Thida Oo, Aye Thi Han, Rigo Daniel Reyes, Raquel Quino, Richard Stead, Sephen A. Vernon, Seng Kheong Fang, Rengaraj Venkatesh, Srinivasan Kavitha, Subbiah R. Krishnadas, Vital P. Costa, Ricardo Y. Abe, Jose P. C. de Vasconcellos, Jamil Miguel Neto, Guillermo Barreto Fong, Vania Castro Tamanaja, Ricardo Fujita, Maria L. Guevara-Fujita, Muhammad Imran Khan, Alex W. Hewitt, Lerprat Mangkornkanokpong, Sunee Chansangpetch, Wing Lau Ho, Jonathan C. H. Chan, Hlaing May Than, Mark Seielstad, 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, Soon Thye Lim, Soo Hong Chew, Richard P. Ebstein, Anavaj Sakuntabhai, Kyu Hyung Park, Jeeyun Ahn, Greet Boland, Harm Snippe, Ya-Xing Wang, Liang Xu, E-Shyong Tai, Curt Hartleben-Matkin, David Lozano-Giral, Juan C. Zenteno
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
Chiea Chuen Khor, Zheng Li, Zhicheng Xie, Xiao Yin Chen, Jia Nee Foo, Kar Seng Sim, Martin L. Hibberd, Eileen Png, Yik Y. Teo, Monisha E. Nongpiur, Shamira A. Perera, Mei-Chin Lee, Anita S. Chan, Mani Baskaran, David Goh, Daniel H. Su, Tina T. Wong, Desmond T. Quek, Victor H. Yong, Xiao-Yu Ng,...
Chiea Chuen Khor, Zheng Li, Zhicheng Xie, Xiao Yin Chen, Jia Nee Foo, Kar Seng Sim, Martin L. Hibberd, Eileen Png, Yik Y. Teo, Monisha E. Nongpiur, Shamira A. Perera, Mei-Chin Lee, Anita S. Chan, Mani Baskaran, David Goh, Daniel H. Su, Tina T. Wong, Desmond T. Quek, Victor H. Yong, Xiao-Yu Ng, Shuang Ru Goh, Yaan Fun Chong, Michael A. Hauser, Ching-Lin Ho, Donald T. Tan, Seang Mei Saw, Tien Y. Wong, Eranga N. Vithana, Tan Do, Thi Lam Huong Dao, Tien Dat Nguyen Thi Thuy Giang Tran, Nhu Hon Do, Hongyan Jia, Chunyan Qiao, Huaizhou Wang, Ningli Wang, Masakazu Nakano, Kei Tashiro, Ronnie George, Balekudaru Shantha, Lingam Vijaya, Khaled Abu-Amero, Saleh Al-Obeidan, Roopam Duvesh, Saravanan Vijayan, Periasamy Sundaresan, Li Jia Chen, Pancy O. S. Tam, Chi Pui Pang, Clement C. Tham, Hon-Tym Wong, Vernon K. Yong, Leonard W. Yip, Boon-Ang Lim, Jeanne Ogle, Owen Hee, Hiroshi Sakai, Michiko Yonahara, Monica Barbosa de Melo, Bruno B. de Souza, Yaakub Azhany, Ahmad Tajudin Liza-Sharmini, Yoko Ikeda, Morio Ueno, Kazuhiko Mori, Shigeru Kinoshita, Rodolfo A. Perez-Grossmann, Tomasz Zarnowski, Ewa Kosior-Jarecka, Urszula Lukasik, Paul J. Foster, Alexander C. Day, Yuzhen Jiang, Naushin Waseem, Sancy Low, Shomi S. Bhattacharya, Jost B. Jonas, Tuan Anh Tran, Tuyet Bach Trinh, Huan Nguyen Pham, Huong T. T. Bui, Humaira Ayub, Raheel Qamar, Farah Akhtar, Shazia Micheal, Anneke I. den Hollander, Paul T. K. Chew, Chelvin C. Sng, Maria C. Aquino, Seng-Chee Loon, Ching-Yu Cheng, Tin Aung, Leyla A. Aljasim, Sami Al-Shahwan, E. Randy Craven, Deepak P. Edward, Tanuj Dada, Rrima Dada, Kuldeep Mohanty, Muneeb A. Faiq, Ramanjit Sihota, Tam Thi Luu, Vi Huyen Doan, Mona S. Awadalla, Kathryn P. Burdon, Jamie E. Craig, Naris Kitnarong, Boonsong Wanichwecharungruang, Yee Yee Aung, Saw Htoo Set, Jelinar Mohamed-Noor, Eng Hui Gan, Thayanithi Sandragasu, Sripriya Sarangapani, Nagaswamy Soumittra, Rahat Husain, Aliza Jap, Manchima Makornwattana, Anuwat Prutthipongsit, Thipnapa Patthanathamrongkasem, Nuttamon Srisamran, Thanh Thu Nguyen, Tung S. Hoan, Mary Ann T. Catacutan, Irene R. Felarca, Chona S. Liao, Jovell Ian M. Peregrino, Edgar U. Leuenberger, Ki-Ho Park, Jin Wook Jeoung, Widya Artini Wiyogo, Emma Rusmayani, Vira Wardhana Istiantoro, Zeiras Eka Djamal, Rajesh S. Kumar, Rohit Shetty, Arkasubhra Ghosh, Celso Tello, Robert Ritch, Yasuo Kurimoto, Masako Kuroda, Suman S. Thapa, Kessara Pathanapitoon, John F. Salmon, Christine A. Kiire, Yong Ho Sohn, Young Hoon Hwang, Antonio Fea, Giulia Consolandi, Giulia Pignata, Carlo Lavia, Laura Dallorto, Mineo Ozaki, Jimmy S. M. Lai, Bonnie N. K. Choy, Jennifer W. H. Shum, Visanee Tantisevi, Prin Rojanapongpun, Anita Manassakorn, Chaw Chaw Khaing, Nay Lin Oo, Takanori Mizoguchi, Satoko Nakano, Toshiaki Kubota, Chan-Yun Kim, Hyoung Won Bae, Guangxian Tang, Sujie Fan, Renyi Wu, Hailin Meng, Jose Maria Martinez, Norlina Ramli, Mimiwati Zahari, Yin Mon Aung, Su Nyunt Zaw, Khin Thida Oo, Aye Thi Han, Rigo Daniel Reyes, Raquel Quino, Richard Stead, Sephen A. Vernon, Seng Kheong Fang, Rengaraj Venkatesh, Srinivasan Kavitha, Subbiah R. Krishnadas, Vital P. Costa, Ricardo Y. Abe, Jose P. C. de Vasconcellos, Jamil Miguel Neto, Guillermo Barreto Fong, Vania Castro Tamanaja, Ricardo Fujita, Maria L. Guevara-Fujita, Muhammad Imran Khan, Alex W. Hewitt, Lerprat Mangkornkanokpong, Sunee Chansangpetch, Wing Lau Ho, Jonathan C. H. Chan, Hlaing May Than, Mark Seielstad, 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, Soon Thye Lim, Soo Hong Chew, Richard P. Ebstein, Anavaj Sakuntabhai, Kyu Hyung Park, Jeeyun Ahn, Greet Boland, Harm Snippe, Ya-Xing Wang, Liang Xu, E-Shyong Tai, Curt Hartleben-Matkin, David Lozano-Giral, Juan C. Zenteno
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