Functionally deficient UBOX5 variants and primary angle-closure glaucoma

Zheng Li, Wee Ling Chng, Zhehao Liu, Tan Do, Masakazu Nakano, Li Jia Chen, Yunhua Loo, Anita S. Y. Chan, Fotis Topouzis, Monisha E. Nongpiur, Mineo Ozaki, Satoko Nakano, Toshiaki Kubota, Shamira A. Perera, Rahat Husain, Tina T. L. Wong, Ching-Yu Cheng, Ching Lin Ho, Khaled Abu-Amero, Hon-Tym Wong, Mônica Barbosa de Melo, Nguyen Do Thi Ngoc Hien, Nguyen Trinh, Nguyen Thi Thanh Huong, Yaakub Azhany, Rodolfo Perez-Grossmann, Poemen PM Chan, Kelsey V. Stuart, Mahantesh I. Biradar, Anita Szabo, Eleftherios Anastasopoulos, Dimitrios A. Giannoulis, Panagiota Ntonti, Evangelia Papakonstantinou, Alexandros Lambropoulos, Anthoula Chatzikyriakidou, Vassilis Kilintzis, Humaira Ayub, Shazia Micheal, Yee Yee Aung, Edgar U. Leuenberger, Antonio Fea, Naing Naing Mon, Amihan Anajao, Xuezhi Bi, Yee Jiun Kok, Rachel S. Chong, Pui-Yi Boey, Darrell Zi Jing Tan, Wendy Wan Ling Sin, Balram Chowbay, Chaw Chaw Khaing, Yin Mon Aung, Rigo Daniel Reyes, Evangelia S. Panagiotou, Dimitrios G. Mikropoulos, Irini C. Voudouragkaki, Georgios D. Panos, Zhicheng Xie, Xiao Yin Chen, Yi Ting Lim, Wee Yang Meah, Ying Shi Lee, Candice Ee Hua Ho, Pearlyn Mei Xin Yeo, Yoko Ikeda, Yuichi Tokuda, Masami Tanaka, Natsue Omi, Morio Ueno, José P. C. Vasconcellos, Vital P. Costa, Ricardo Y. Abe, Bruno B. Souza, Guillermo B. Fong, Vania V. Castro, Ricardo Fujita, Maria L. Guevara-Fujita, Farah Akhtar, Mahmood Ali, Mary Ann T. Catacutan, Irene R. Felarca, Chona S. Liao, Carlo Lavia, Hlaing May Than, Khin Thida Oo, Phyu P. Soe-Kyaw, Paolo Frezzotti, Francesca Pasutto, Raquel Quino, Zaw Minn-Din, Nay Lin Oo, Laura Dallorto, Saw Htoo Set, Vi Huyen Doan, Raheel Qamar, Jamil Miguel Neto, Saleh Al-Obeidan, Clement C. Tham, Kazuhiko Mori, Chie Sotozono, Shigeru Kinoshita, Anastasios G. Konstas, Ahmad Tajudin Liza-Sharmini, Juan C. Zenteno, Nhu Hon Do, Paul J. Foster, Kei Tashiro, Chi Pui Pang, Anthony P. Khawaja, Tin Aung, Zhenxun Wang () and Chiea Chuen Khor ()
Additional contact information
Zheng Li: Genome #02-01
Wee Ling Chng: Genome #02-01
Zhehao Liu: Genome #02-01
Tan Do: Vietnam National Institute of Ophthalmology
Masakazu Nakano: Kyoto Prefectural University of Medicine
Li Jia Chen: The Chinese University of Hong Kong
Yunhua Loo: National University of
Anita S. Y. Chan: National University of
Fotis Topouzis: Aristotle University of Thessaloniki
Monisha E. Nongpiur: National University of
Mineo Ozaki: National University of
Satoko Nakano: Oita University Faculty of Medicine
Toshiaki Kubota: Oita University Faculty of Medicine
Shamira A. Perera: National University of
Rahat Husain: National University of
Tina T. L. Wong: National University of
Ching-Yu Cheng: National University of
Ching Lin Ho: National University of
Khaled Abu-Amero: King Khaled Eye Specialist Hospital and Research Center
Hon-Tym Wong: NHG Eye Institute
Mônica Barbosa de Melo: Universidade Estadual de Campinas
Nguyen Do Thi Ngoc Hien: Vietnam National Institute of Ophthalmology
Nguyen Trinh: Vietnam National Institute of Ophthalmology
Nguyen Thi Thanh Huong: Vietnam National Institute of Ophthalmology
Yaakub Azhany: Kubang Kerian
Rodolfo Perez-Grossmann: Instituto de Glaucoma y Catarata
Poemen PM Chan: The Chinese University of Hong Kong
Kelsey V. Stuart: Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology
Mahantesh I. Biradar: Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology
Anita Szabo: Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology
Eleftherios Anastasopoulos: Aristotle University of Thessaloniki
Dimitrios A. Giannoulis: Aristotle University of Thessaloniki
Panagiota Ntonti: Aristotle University of Thessaloniki
Evangelia Papakonstantinou: Aristotle University of Thessaloniki
Alexandros Lambropoulos: Aristotle University of Thessaloniki
Anthoula Chatzikyriakidou: Aristotle University of Thessaloniki
Vassilis Kilintzis: Aristotle University of Thessaloniki
Humaira Ayub: Mang
Shazia Micheal: Radboud University Medical Centre
Yee Yee Aung: University of Medicine Mandalay
Edgar U. Leuenberger: Asian Eye Institute
Antonio Fea: Dipartimento di Scienze Chirurgiche - Universita’ di Torino
Naing Naing Mon: National University of
Amihan Anajao: #06-01 Centros
Xuezhi Bi: National University of
Yee Jiun Kok: #06-01 Centros
Rachel S. Chong: National University of
Pui-Yi Boey: National University of
Darrell Zi Jing Tan: Genome #02-01
Wendy Wan Ling Sin: National University of
Balram Chowbay: National Cancer Centre of
Chaw Chaw Khaing: No(1) Defence Services General Hospital
Yin Mon Aung: Grand Hantha International Hospital
Rigo Daniel Reyes: Asian Hospital & Medical Center
Evangelia S. Panagiotou: Aristotle University of Thessaloniki
Dimitrios G. Mikropoulos: Aristotle University of Thessaloniki
Irini C. Voudouragkaki: Aristotle University of Thessaloniki
Georgios D. Panos: Aristotle University of Thessaloniki
Zhicheng Xie: Genome #02-01
Xiao Yin Chen: Genome #02-01
Yi Ting Lim: Genome #02-01
Wee Yang Meah: Genome #02-01
Ying Shi Lee: Singapore National Eye Centre
Candice Ee Hua Ho: Singapore National Eye Centre
Pearlyn Mei Xin Yeo: National University of
Yoko Ikeda: Kyoto Prefectural University of Medicine
Yuichi Tokuda: Kyoto Prefectural University of Medicine
Masami Tanaka: Kyoto Prefectural University of Medicine
Natsue Omi: Kyoto Prefectural University of Medicine
Morio Ueno: Kyoto Prefectural University of Medicine
José P. C. Vasconcellos: Universidade Estadual de Campinas
Vital P. Costa: Universidade Estadual de Campinas
Ricardo Y. Abe: Universidade Estadual de Campinas
Bruno B. Souza: Universidade Estadual de Campinas
Guillermo B. Fong: Instituto de Ciencias Medicas
Vania V. Castro: Hospital Nacional Arzobispo Loayza
Ricardo Fujita: Universidad de San Martin de Porres
Maria L. Guevara-Fujita: Universidad de San Martin de Porres
Farah Akhtar: Al-Shifa Trust Eye Hospital
Mahmood Ali: Al-Shifa Trust Eye Hospital
Mary Ann T. Catacutan: Asian Eye Institute
Irene R. Felarca: Asian Eye Institute
Chona S. Liao: Asian Eye Institute
Carlo Lavia: Dipartimento di Scienze Chirurgiche - Universita’ di Torino
Hlaing May Than: North Okkalarpa General Hospital
Khin Thida Oo: Grand Hantha International Hospital
Phyu P. Soe-Kyaw: Grand Hantha International Hospital
Paolo Frezzotti: University of Siena
Francesca Pasutto: Kussmaulallee 4
Raquel Quino: Asian Hospital & Medical Center
Zaw Minn-Din: Grand Hantha International Hospital
Nay Lin Oo: No(1) Defence Services General Hospital
Laura Dallorto: Dipartimento di Scienze Chirurgiche - Universita’ di Torino
Saw Htoo Set: University of Medicine Mandalay
Vi Huyen Doan: Hue University of Medicine and Pharmacy
Raheel Qamar: ICESCO
Jamil Miguel Neto: Universidade Estadual de Campinas
Saleh Al-Obeidan: King Saud University
Clement C. Tham: The Chinese University of Hong Kong
Kazuhiko Mori: Kyoto Prefectural University of Medicine
Chie Sotozono: Kyoto Prefectural University of Medicine
Shigeru Kinoshita: Kyoto Prefectural University of Medicine
Anastasios G. Konstas: Aristotle University of Thessaloniki
Ahmad Tajudin Liza-Sharmini: Kubang Kerian
Juan C. Zenteno: UNAM
Nhu Hon Do: Vietnam National Institute of Ophthalmology
Paul J. Foster: Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology
Kei Tashiro: Kyoto Prefectural University of Medicine
Chi Pui Pang: The Chinese University of Hong Kong
Anthony P. Khawaja: Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology
Tin Aung: National University of
Zhenxun Wang: Genome #02-01
Chiea Chuen Khor: Genome #02-01

Nature Communications, 2025, vol. 16, issue 1, 1-13

Abstract: Abstract Primary angle-closure glaucoma is a major cause of irreversible blindness worldwide afflicting >20 million people. Through whole exome sequencing, we analysed the association between gene-based burden of rare, protein-altering genetic variants and disease risk in 4,667 affected individuals and 5,473 unaffected controls. We tested genes surpassing exome-wide significance (P

Date: 2025
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DOI: 10.1038/s41467-025-62775-x

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