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Functionally deficient UBOX5 variants and primary angle-closure glaucoma

Author

Listed:
  • Zheng Li

    (Genome #02-01)

  • Wee Ling Chng

    (Genome #02-01
    National University of)

  • Zhehao Liu

    (Genome #02-01
    National University of)

  • 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
    Singapore National Eye Centre)

  • Anita S. Y. Chan

    (National University of
    Singapore National Eye Centre)

  • Fotis Topouzis

    (Aristotle University of Thessaloniki)

  • Monisha E. Nongpiur

    (National University of
    Singapore National Eye Centre)

  • Mineo Ozaki

    (National University of
    Singapore National Eye Centre
    University of Miyazaki)

  • Satoko Nakano

    (Oita University Faculty of Medicine)

  • Toshiaki Kubota

    (Oita University Faculty of Medicine)

  • Shamira A. Perera

    (National University of
    Singapore National Eye Centre)

  • Rahat Husain

    (National University of
    Singapore National Eye Centre)

  • Tina T. L. Wong

    (National University of
    Singapore National Eye Centre)

  • Ching-Yu Cheng

    (National University of
    Singapore National Eye Centre)

  • Ching Lin Ho

    (National University of
    Singapore National Eye Centre)

  • 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
    University of the East Ramon Magsaysay College of Medicine)

  • 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
    #06-01 Centros)

  • Yee Jiun Kok

    (#06-01 Centros)

  • Rachel S. Chong

    (National University of
    Singapore National Eye Centre)

  • Pui-Yi Boey

    (National University of
    Singapore National Eye Centre)

  • 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
    University Hospitals Coventry and Warwickshire Trust)

  • 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
    University of Nottingham)

  • 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
    University of the Philippines- College of Medicine)

  • 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
    Pakistan Academy of Sciences)

  • 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
    Institute of Ophthalmology “Conde de Valenciana”)

  • 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
    Singapore National Eye Centre)

  • Zhenxun Wang

    (Genome #02-01
    National University of
    Singapore National Eye Centre)

  • Chiea Chuen Khor

    (Genome #02-01)

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

Suggested Citation

  • 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 & , 2025. "Functionally deficient UBOX5 variants and primary angle-closure glaucoma," Nature Communications, Nature, vol. 16(1), pages 1-13, December.
    • Handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-025-62775-x
    DOI: 10.1038/s41467-025-62775-x
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