ArticleNature communications2025
Functionally deficient UBOX5 variants and primary angle-closure glaucoma.
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Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
113 authors.
Zheng Li *Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore.ORCID http://orcid.org/0000-0002-7060-2213
Wee Ling Chng *Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore.
Zhehao Liu *Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore.
Tan Do *Vietnam National Institute of Ophthalmology, Hanoi, Vietnam.
Masakazu Nakano *Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID http://orcid.org/0000-0001-6720-2158
Li Jia Chen *Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China.ORCID http://orcid.org/0000-0003-3500-5840
Yunhua LooDuke-NUS Medical School, National University of, Singapore, Singapore.
Anita S Y ChanDuke-NUS Medical School, National University of, Singapore, Singapore.ORCID http://orcid.org/0000-0001-8602-9450
Fotis Topouzis1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Monisha E NongpiurDuke-NUS Medical School, National University of, Singapore, Singapore.
Mineo OzakiDuke-NUS Medical School, National University of, Singapore, Singapore.
Satoko NakanoDepartment of Ophthalmology, Oita University Faculty of Medicine, Yufu, Japan.
Toshiaki KubotaDepartment of Ophthalmology, Oita University Faculty of Medicine, Yufu, Japan.ORCID http://orcid.org/0000-0001-6177-549X
Shamira A PereraDuke-NUS Medical School, National University of, Singapore, Singapore.
Rahat HusainDuke-NUS Medical School, National University of, Singapore, Singapore.
Tina T L WongDuke-NUS Medical School, National University of, Singapore, Singapore.
Ching-Yu ChengDuke-NUS Medical School, National University of, Singapore, Singapore.ORCID http://orcid.org/0000-0003-0655-885X
Ching Lin HoDuke-NUS Medical School, National University of, Singapore, Singapore.
Khaled Abu-AmeroDepartment of Research, King Khaled Eye Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hon-Tym WongDept of Ophthalmology, Tan Tock Seng Hospital, NHG Eye Institute, Singapore, Singapore.
Mônica Barbosa de MeloCentro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil.
Nguyen Do Thi Ngoc HienVietnam National Institute of Ophthalmology, Hanoi, Vietnam.
Nguyen Van TrinhVietnam National Institute of Ophthalmology, Hanoi, Vietnam.
Nguyen Thi Thanh HuongVietnam National Institute of Ophthalmology, Hanoi, Vietnam.
Yaakub AzhanyDepartment of Ophthalmology and Visual Science, School of Medical Sciences, Health campus, Universiti Sains Malaysia and Hospital Pakar Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.
Rodolfo Perez-GrossmannInstituto de Glaucoma y Catarata, Lima, Perú.
Poemen Pm ChanDepartment of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China.ORCID http://orcid.org/0000-0003-4298-8806
Kelsey V StuartNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, UK.
Mahantesh I BiradarNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0002-4114-6255
Anita SzaboNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, UK.
Eleftherios Anastasopoulos1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Dimitrios A Giannoulis1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Panagiota Ntonti1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.ORCID http://orcid.org/0000-0001-5628-3765
Evangelia Papakonstantinou1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Alexandros LambropoulosLaboratory of Medical Biology - Genetics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.ORCID http://orcid.org/0000-0002-8887-222X
Anthoula ChatzikyriakidouLaboratory of Medical Biology - Genetics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Vassilis Kilintzis1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Humaira AyubDepartment of Biological and Health Sciences, Pak-Austria Fachhochschule: Institute of Applied Sciences and Technology, Mang, Haripur, KPK, Pakistan.
Shazia MichealDepartment of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
Yee Yee AungMandalay Eye department, Mandalay Eye ENT hospital, University of Medicine Mandalay, Mandalay, Myanmar.
Edgar U LeuenbergerAsian Eye Institute, Manila, Philippines.
Antonio FeaDipartimento di Scienze Chirurgiche - Universita' di Torino, Turin, Italy.ORCID http://orcid.org/0000-0002-6551-6054
Naing Naing MonDuke-NUS Medical School, National University of, Singapore, Singapore.
Amihan AnajaoBioprocessing Technology Institute (BTI), Agency for Science, Technology and Research (A*STAR), 20 Biopolis Way, #06-01 Centros, Singapore, Singapore.
Xuezhi BiDuke-NUS Medical School, National University of, Singapore, Singapore.ORCID http://orcid.org/0000-0001-6702-0805
Yee Jiun KokBioprocessing Technology Institute (BTI), Agency for Science, Technology and Research (A*STAR), 20 Biopolis Way, #06-01 Centros, Singapore, Singapore.ORCID http://orcid.org/0000-0001-6875-8262
Rachel S ChongDuke-NUS Medical School, National University of, Singapore, Singapore.
Pui-Yi BoeyDuke-NUS Medical School, National University of, Singapore, Singapore.
Darrell Zi Jing TanGenome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore.
Wendy Wan Ling SinDuke-NUS Medical School, National University of, Singapore, Singapore.
Balram ChowbayNational Cancer Centre of, Singapore, Singapore.
Chaw Chaw KhaingDepartment of Ophthalmology, No(1) Defence Services General Hospital, Yangon, Myanmar.
Yin Mon AungMyanmar Eye Centre, Grand Hantha International Hospital, Yangon, Myanmar.
Rigo Daniel ReyesDepartment of Ophthalmology/Glaucoma Section, Asian Hospital & Medical Center, Muntinlupa City, Philippines.
Evangelia S Panagiotou1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Dimitrios G Mikropoulos1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Irini C Voudouragkaki1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Georgios D Panos1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.ORCID http://orcid.org/0000-0001-8399-7456
Zhicheng XieGenome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore.
Xiao Yin ChenGenome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore.
Yi Ting LimGenome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore.
Wee Yang MeahGenome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore.
Ying Shi LeeSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Candice Ee Hua HoSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Pearlyn Mei Xin YeoDuke-NUS Medical School, National University of, Singapore, Singapore.
Yoko IkedaDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Yuichi TokudaDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID http://orcid.org/0009-0000-2725-106X
Masami TanakaDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Natsue OmiDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Morio UenoDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID http://orcid.org/0000-0002-8137-5730
José P C de VasconcellosDepartamento de Oftalmologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
Vital P CostaDepartamento de Oftalmologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
Ricardo Y AbeDepartamento de Oftalmologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
Bruno B de SouzaCentro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil.
Guillermo B FongInstituto de Ciencias Medicas, Lima, Perú.
Vania V CastroHospital Nacional Arzobispo Loayza, Lima, Perú.
Ricardo FujitaCentro de Genetica y Biologia Molecular, Universidad de San Martin de Porres, Lima, Perú.
Maria L Guevara-FujitaCentro de Genetica y Biologia Molecular, Universidad de San Martin de Porres, Lima, Perú.
Farah AkhtarDepartment of Glaucoma, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
Mahmood AliDepartment of Glaucoma, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
Mary Ann T CatacutanAsian Eye Institute, Manila, Philippines.
Irene R FelarcaAsian Eye Institute, Manila, Philippines.
Chona S LiaoAsian Eye Institute, Manila, Philippines.
Carlo LaviaDipartimento di Scienze Chirurgiche - Universita' di Torino, Turin, Italy.
Hlaing May ThanDepartment of Ophthalmology, North Okkalarpa General Hospital, Yangon, Myanmar.
Khin Thida OoMyanmar Eye Centre, Grand Hantha International Hospital, Yangon, Myanmar.
Phyu P Soe-KyawMyanmar Eye Centre, Grand Hantha International Hospital, Yangon, Myanmar.
Paolo FrezzottiSurgery Department, Section of Ophthalmology, University of Siena, Siena, Italy.
Francesca PasuttoHumangenetisches Institut, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Kussmaulallee 4, 91054, Erlangen, Germany.ORCID http://orcid.org/0000-0002-0026-5362
Raquel QuinoDepartment of Ophthalmology/Glaucoma Section, Asian Hospital & Medical Center, Muntinlupa City, Philippines.
Zaw Minn-DinMyanmar Eye Centre, Grand Hantha International Hospital, Yangon, Myanmar.
Nay Lin OoDepartment of Ophthalmology, No(1) Defence Services General Hospital, Yangon, Myanmar.
Laura DallortoDipartimento di Scienze Chirurgiche - Universita' di Torino, Turin, Italy.
Saw Htoo SetMandalay Eye department, Mandalay Eye ENT hospital, University of Medicine Mandalay, Mandalay, Myanmar.
Vi Huyen DoanHue University of Medicine and Pharmacy, Danang City, Vietnam.
Raheel QamarScience and Environment Sector, ICESCO, Rabat, Morocco.
Jamil Miguel NetoDepartamento de Oftalmologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.ORCID http://orcid.org/0000-0002-7024-1294
Saleh Al-ObeidanDepartment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.ORCID http://orcid.org/0000-0002-0573-4017
Clement C ThamDepartment of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China.ORCID http://orcid.org/0000-0003-4407-6907
Kazuhiko MoriDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID http://orcid.org/0000-0002-5505-4917
Chie SotozonoDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Shigeru KinoshitaDepartment of Frontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID http://orcid.org/0000-0002-6839-251X
Anastasios G Konstas1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Ahmad Tajudin Liza-SharminiDepartment of Ophthalmology and Visual Science, School of Medical Sciences, Health campus, Universiti Sains Malaysia and Hospital Pakar Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.ORCID http://orcid.org/0000-0001-8144-8816
Juan C ZentenoRare Disease Diagnostic Unit/Biochemistry Department, Faculty of Medicine, UNAM, Mexico City, Mexico.
Nhu Hon DoVietnam National Institute of Ophthalmology, Hanoi, Vietnam.
Paul J FosterNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0002-4755-177X
Kei TashiroDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Chi Pui PangDepartment of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China.
Anthony P KhawajaNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0001-6802-8585
Tin AungDuke-NUS Medical School, National University of, Singapore, Singapore.
Zhenxun WangGenome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore. zhenxun.wang@duke-nus.edu.sg.ORCID http://orcid.org/0000-0002-7862-4636
Chiea Chuen KhorGenome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore. khorcc@a-star.edu.sg.ORCID http://orcid.org/0000-0002-1128-4729
Funding
No grant is acknowledged in the PubMed record.
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 < 2.5 × 10
Indexed as
Glaucoma, Angle-ClosureAgedCase-Control StudiesExome SequencingFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedUbiquitination
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