Evidence map›Paper›PMID 41238566›Full record

SynthesisNature communications2025

GWAS for primary angle-closure glaucoma identifies loci related to ocular biometry and morphology.

Robert N Luben, Mahantesh I Biradar, Kelsey V Stuart, Ruiqi Hu, Zihan Sun, Zheng Li, Ningli Wang, Tan Do, Chi Pui Pang, Masakazu Nakano and 29 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

39 authors.

Robert N Luben *NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK. r.luben@ucl.ac.uk.ORCID http://orcid.org/0000-0002-5088-6343
Mahantesh I Biradar *NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0002-4114-6255
Kelsey V Stuart *NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0001-7353-8774
Ruiqi HuNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0009-0009-5219-4963
Zihan SunNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
Zheng LiGenome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore.ORCID http://orcid.org/0000-0002-7060-2213
Ningli WangBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Science Key Lab, Beijing, China.ORCID http://orcid.org/0000-0002-8933-4482
Tan DoVietnam National Eye Hospital, Hanoi, Vietnam.
Chi Pui PangDepartment of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Shatin, N.T, Hong Kong.
Masakazu NakanoDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID http://orcid.org/0000-0001-6720-2158
Kei TashiroDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
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
Chie SotozonoDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Shigeru KinoshitaFrontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID http://orcid.org/0000-0002-6839-251X
Kazuhiko MoriDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID http://orcid.org/0000-0002-5505-4917
Naris KitnarongDepartment of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Antonio FeaDipartimento di Scienze Chirurgiche, Università di Torino, Turin, Italy.ORCID http://orcid.org/0000-0002-6551-6054
Mônica B MeloCentro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, Brazil.ORCID http://orcid.org/0000-0002-1801-5441
José Paulo C VasconcellosDepartamento de Oftalmologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, Brazil.
Vital P CostaDepartamento de Oftalmologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, Brazil.
Monisha E NongpiurDuke-NUS Medical School, Singapore, Singapore.
Ching Lin HoDuke-NUS Medical School, Singapore, Singapore.
Shamira A PereraDuke-NUS Medical School, Singapore, Singapore.
Jamie E CraigDepartment of Ophthalmology, Flinders Health and Medical Research Institute, Bedford Park, SA, Australia.ORCID http://orcid.org/0000-0001-9955-9696
Antonia KolovosDepartment of Ophthalmology, Flinders Health and Medical Research Institute, Bedford Park, SA, Australia.ORCID http://orcid.org/0000-0001-6618-0137
Ahmad Tajudin Liza-SharminiDepartment of Ophthalmology and Visual Science and Hospital Pakar Universiti Sains Malaysia, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia.ORCID http://orcid.org/0000-0001-8144-8816
Edgar U LeuenbergerAsian Eye Institute and University of the East Ramon Magsaysay College of Medicine, Manila, Philippines.
Ki Ho ParkDepartment of Ophthalmology, Seoul National University Hospital, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0002-8137-8843
Lingam VijayaSankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu, India.
Ronnie GeorgeSankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu, India.
Tin Aung *Duke-NUS Medical School, Singapore, Singapore.
C C Khor *Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore.ORCID http://orcid.org/0000-0002-1128-4729
Paul J Foster *NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0002-4755-177X
Pirro Hysi *Twin Research and Genetic Epidemiology and Ophthalmology, King's College London, London, UK.ORCID http://orcid.org/0000-0001-5752-2510
Anthony P Khawaja *NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0001-6802-8585

Funding

Wellcome Trust
6 · The paper itself

Abstract

GWAS of primary angle-closure glaucoma have identified eight loci conferring risk in Asian populations. However, it remains unclear whether the genetic risk factors for the disease are consistent across different populations. Here, we present a discovery GWAS for primary angle-closure glaucoma in Europeans using the UK Biobank. We replicate our findings in six independent European populations and compare these results with results from 14 Asian cohorts. Five genomic regions in the discovery cohort are associated at genome-wide significance, including two loci previously identified in Asian cohorts. We next meta-analyse the discovery and replication cohorts to identify six additional novel loci, all previously associated with refractive error. Mendelian randomisation provides evidence for a causal role of shorter axial length and hypermetropic refractive error on primary angle-closure glaucoma. A polygenic risk score derived from the European ancestry meta-analysis demonstrates significant associations with quantitative ocular traits - including a shallower anterior chamber and higher intraocular pressure - in the independent EPIC-Norfolk cohort. Finally, a multi-ancestry meta-analysis of all 21 European and Asian cohorts identifies 12 further novel loci. This work shows that genetic factors associated with a darker iris and hypermetropia confer risk for primary angle-closure glaucoma.

Indexed as

Glaucoma, Angle-ClosureAgedAsian PeopleBiometryFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIntraocular PressureMaleMendelian Randomization AnalysisMiddle AgedMultifactorial InheritancePolymorphism, Single NucleotideRisk Factors

Identifiers

PMID41238566
PMCPMC12618631

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.