SynthesisNature communications2021
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Open access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 276 papers, 10 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
276citing papers in PubMed, 10 pooled it
70.4field-weighted citation impact, top 1% of its field
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.
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.
Who cites it
276 citing papers in PubMed, 10 syntheses or guidelines pooled it, 466 citations in OpenAlex.
- Tobacco smoking is not associated with primary open-angle glaucoma: a systematic review and meta-analysis.International ophthalmology · 2026Pooled it
- Pooled it
- Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma.Nature communications · 2024Pooled it
- Pooled it
- Evaluation of the Observational Associations and Shared Genetics Between Glaucoma With Depression and Anxiety.Investigative ophthalmology & visual science · 2024Pooled it
- Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.Cell reports. Medicine · 2024Pooled it
- Novel functional insights into ischemic stroke biology provided by the first genome-wide association study of stroke in indigenous Africans.Genome medicine · 2024Pooled it
- Cannabis use and the risk of primary open-angle glaucoma: a Mendelian randomization study.Scientific reports · 2023Pooled it
- Genome-wide association studies and cross-population meta-analyses investigating short and long sleep duration.Nature communications · 2023Pooled it
- Background polygenic risk modulates the association between glaucoma and cardiopulmonary diseases and measures: an analysis from the UK Biobank.The British journal of ophthalmology · 2023Pooled it
- Association between triglyceride-glucose indices and incident glaucoma: integrated UK Biobank and Mendelian randomization study.Eye and vision (London, England) · 2026Article
- A Comprehensive Assessment of the Shared Genetic Architecture between Myopia and Open-Angle Glaucoma.Ophthalmology science · 2026Article
- VEGFA-Positive Macrophages Regulate Aqueous Humor Outflow in Aged Mice and Humans.bioRxiv : the preprint server for biology · 2026Article
- Decoding Primary Open-Angle Glaucoma: A Multi-Omics Approach to Identify Druggable Effector Genes.Investigative ophthalmology & visual science · 2026Article
- A Whole-Genome Sequence Genome-Wide Association Study inOphthalmology science · 2026Article
- Eyes of Africa: The Genetics of Blindness. Baseline characteristics, ocular features, and associations with glaucoma in continental Africans.Eye (London, England) · 2026Article
- Schlemm's Canal Development and Implications for Glaucoma Treatment.Annual review of vision science · 2026Review
- Article
- A Human Pharmacogenomics Approach Provides Insight Into the Pathogenesis and Pathophysiology of Steroid-Induced Ocular Hypertension.Ophthalmology science · 2026Article
- Artificial Intelligence-Driven Multimodal Prediction of 10-Year Incident Glaucoma Integrating Genetic and Deep Learning-Derived Imaging Features.Ophthalmology science · 2026Article
216 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
86 authors at 20 institutions in 15 countries.
Puya Gharahkhani *QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. Puya.Gharahkhani@qimrberghofer.edu.au.ORCID 0000-0002-4203-5952
Eric Jorgenson *Division of Research, Kaiser Permanente Northern California (KPNC), Oakland, CA, USA.ORCID 0000-0002-5829-8191
Pirro Hysi *Twin Research and Genetic Epidemiology, King's College London, London, UK.ORCID 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 0000-0001-6802-8585
Sarah Pendergrass *Geisinger Research, Biomedical and Translational Informatics Institute, Danville, PA, USA.
Xikun HanQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0002-3823-7308
Jue Sheng OngQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0002-6062-710X
Alex W HewittMenzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.ORCID 0000-0002-5123-5999
Ayellet V SegrèDepartment of Ophthalmology, Harvard Medical School, Boston, MA, USA.
John M RouhanaDepartment of Ophthalmology, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-8599-0271
Andrew R HamelDepartment of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Robert P IgoDepartment of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA.ORCID 0000-0002-0024-1993
Helene ChoquetDivision of Research, Kaiser Permanente Northern California (KPNC), Oakland, CA, USA.ORCID 0000-0001-9839-8667
Ayub QassimDepartment of Ophthalmology, Flinders University, Bedford Park, SA, Australia.
Navya S JosyulaGeisinger Research, Biomedical and Translational Informatics Institute, Rockville, MD, USA.ORCID 0000-0003-2782-8812
Jessica N Cooke BaileyDepartment of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA.ORCID 0000-0002-4001-8702
Pieter W M BonnemaijerDepatment of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.ORCID 0000-0001-5154-6765
Adriana IglesiasDepatment of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.ORCID 0000-0001-5532-764X
Owen M SiggsDepartment of Ophthalmology, Flinders University, Bedford Park, SA, Australia.ORCID 0000-0003-2840-4851
Terri L YoungDepartment of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, WI, USA.ORCID 0000-0001-6994-9941
Veronique VitartMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID 0000-0002-4991-3797
Alberta A H J ThiadensDepatment of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.ORCID 0000-0002-4911-9462
Juha KarjalainenInstitute for Molecular Medicine Finland, HiLIFE, University of Helsinki, Helsinki, Finland.
Steffen UebeInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität, Erlangen-Nürnberg, Erlangen, Germany.
Ronald B MellesDepartment of Ophthalmology, KPNC, Redwood City, CA, USA.
K Saidas NairDepartment of Ophthalmology, School of Medicine, University of California San Francisco (UCSF), San Francisco, CA, USA.
Robert LubenDepartment of Public Health and Primary Care, Institute of Public Health, University of Cambridge School of Clinical Medicine, Cambridge, UK.ORCID 0000-0002-5088-6343
Mark SimcoeTwin Research and Genetic Epidemiology, King's College London, London, UK.ORCID 0000-0003-2432-0810
Nishani AmersingheUniversity Hospital Southampton NHS Foundation Trust, Southampton, UK.
Angela J CreeFaculty of Medicine, University of Southampton, Southampton, UK.ORCID 0000-0002-1987-8900
Rene HohnDepartment of Ophthalmology, Inselspital, University Hospital Bern, University of Bern, Bern, Germany.
Alicia PoplawskiInstitute of Medical Biostatistics, Epidemiology and Informatics, University Medical Center Mainz, Mainz, Germany.ORCID 0000-0003-2527-0763
Li Jia ChenDepartment of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Shi-Song RongDepartment of Ophthalmology, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-8352-6363
Tin AungSingapore Eye Research Institute, Singapore National Eye Certre, Singapore, Singapore.
Eranga Nishanthie VithanaSingapore Eye Research Institute, Singapore National Eye Certre, Singapore, Singapore.ORCID 0000-0002-8898-0095
NEIGHBORHOOD consortium
ANZRAG consortium
Biobank Japan project
FinnGen study
UK Biobank Eye and Vision Consortium
GIGA study group
23 and Me Research Team
Gen TamiyaTohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, Japan.
Yukihiro ShigaDepartment of Ophthalmology, Tohoku University Graduate School of Medicine, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, Japan.
Masayuki YamamotoTohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, Japan.ORCID 0000-0002-9073-9436
Toru NakazawaDepartment of Ophthalmology, Tohoku University Graduate School of Medicine, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, Japan.
Hannah CurrantEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0003-2764-6787
Ewan BirneyEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0001-8314-8497
Xin Wang23 and Me Inc., San Francisco, CA, USA.ORCID 0000-0001-7242-357X
Adam Auton23 and Me Inc., San Francisco, CA, USA.
Michelle K LuptonQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0003-4069-8020
Adeyinka AshayeDepartment of Ophthalmology, University of Ibadan, Ibadan, Nigeria.
Olusola OlawoyeDepartment of Ophthalmology, University of Ibadan, Ibadan, Nigeria.ORCID 0000-0003-2357-8924
Susan E WilliamsDivision of Ophthalmology, Department of Neurosciences, University of the Witwatersrand, Johannesburg, South Africa.ORCID 0000-0002-4479-8638
Stephen AkafoUnit of Ophthalmology, Department of Surgery, University of Ghana Medical School, Accra, Ghana.
Michele RamsaySydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.ORCID 0000-0002-4156-4801
Kazuki HashimotoDepartment of Ophthalmology, Tohoku University Graduate School of Medicine, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, Japan.
Yoichiro KamataniLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID 0000-0001-8748-5597
Masato AkiyamaLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Yukihide MomozawaLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Paul J FosterNational Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital National Health Service Foundation Trust & UCL Institute of Ophthalmology, London, UK.ORCID 0000-0002-4755-177X
Peng T KhawNational Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital National Health Service Foundation Trust & UCL Institute of Ophthalmology, London, UK.ORCID 0000-0002-8087-2268
James E MorganCardiff Centre for Vision Sciences, College of Biomedical and Life Sciences, Maindy Road, Cardiff University, Cardiff, UK.
Nicholas G StrouthidisNational Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital National Health Service Foundation Trust & UCL Institute of Ophthalmology, London, UK.
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID 0000-0002-4472-8103
Jae H KangChanning Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-4812-0557
Chi Pui PangDepartment of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Francesca PasuttoInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität, Erlangen-Nürnberg, Erlangen, Germany.ORCID 0000-0002-0026-5362
Paul MitchellCentre for Vision Research, Department of Ophthalmology and Westmead Institute for Medical Research, University of Sydney, Sydney, NSW, Australia.
Andrew J LoteryUniversity Hospital Southampton NHS Foundation Trust, Southampton, UK.ORCID 0000-0001-5541-4305
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Cornelia van DuijnDepartment of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.
Jonathan L HainesDepartment of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA.ORCID 0000-0002-4351-4728
Chris HammondTwin Research and Genetic Epidemiology, King's College London, London, UK.ORCID 0000-0002-3227-2620
Louis R PasqualeDepartment of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.ORCID 0000-0002-5835-3496
Caroline C W KlaverDepatment of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.ORCID 0000-0002-2355-5258
Michael HauserDepartment of Medicine, Duke University, Durham, NC, USA.
Chiea Chuen KhorDivision of Human Genetics, Genome Institute of Singapore, Singapore, Singapore.ORCID 0000-0002-1128-4729
David A MackeyMenzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.
Michiaki KuboRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Ching-Yu ChengSingapore Eye Research Institute, Singapore National Eye Certre, Singapore, Singapore.ORCID 0000-0003-0655-885X
Jamie E CraigDepartment of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, SA, Australia.
Stuart MacGregorQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0001-6731-8142
Janey L WiggsDepartment of Ophthalmology, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-1890-3278
23andMe (United States) · USUniversity of Helsinki · FIPfizer (United States) · USHospital District of Helsinki and Uusimaa · FIAbbVie (United States) · USMoorfields Eye Hospital · GBFinnish Institute for Health and Welfare · FIQueen's University Belfast · GBTampere University · FIGlaxoSmithKline (United Kingdom) · GBMerck & Co., Inc., Rahway, NJ, USA (United States) · USFlinders University · AUNorthern Ostrobothnia Hospital District · FISanofi (France) · FRVarsinais-Suomen Sairaanhoitopiiri · FIBiogen (United States) · USBorealis (Finland) · FIMoorfields Eye Hospital NHS Foundation Trust · GBHarvard University · USPirkanmaa Hospital District · FI
Funding
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Janey L Wiggs · 2002 to 2026
$15.1MGene-Environment Interactions in GlaucomaR01EY015473 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI PASQUALE, LOUIS ROBERT · 2005 to 2021
$8.3MThe NEIGHBORHOOD: POAG Heritable Overall Operational DatabaseR01EY022305 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI WIGGS, JANEY L · 2012 to 2025
$7.9MUncovering novel biological processes and pathogenic mechanisms for glaucomaR01EY031424 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Ayellet Vered Segre · 2020 to 2026
$4.5MModule 3: Gene Expression/ProteomicsP30EY031631 · NEI · AUGUSTA UNIVERSITY · PI Xingjun Fan · 2020 to 2026
$3.6MGene Discovery in Familial KeratoconusR01EY023242 · NEI · DUKE UNIVERSITY · PI LIU, YUTAO · 2013 to 2023
$3.4MDetermining Molecular and Cellular Mechanisms of GlaucomaR01EY022891 · NEI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI NAIR, KAYARAT SAIDAS · 2013 to 2017
$2.0MInternational Collaborative Twin Study of Refractive and Glaucoma EndophenotypesR01EY018246 · NEI · DUKE UNIVERSITY · PI YOUNG, TERRI LOIS · 2007 to 2009
$1.8MThe Role of Refractive Error in the Etiology of GlaucomaR01EY027004 · NEI · KAISER FOUNDATION RESEARCH INSTITUTE · PI CHOQUET, HELENE · 2017 to 2020
$1.6MLong Noncoding RNA lncLOXL1 and Exfoliation Syndrome.R21EY028671 · NEI · AUGUSTA UNIVERSITY · PI LIU, YUTAO · 2018 to 2019
$467kCancer Research UK 14136Cancer Research UK C864/A14136Medical Research Council G0401527Medical Research Council G1000143Medical Research Council MC_PC_13048Medical Research Council MC_UU_00007/10Medical Research Council MC-UU_12015/1Medical Research Council MC_UU_12015/1Medical Research Council MR/N003284/1Medical Research Council MR/T019050/1Medical Research Council MR/T040912/1NEI NIH HHS P30 EY014104NEI NIH HHS P30 EY031631NEI NIH HHS R01 EY015473NEI NIH HHS R01 EY018246NEI NIH HHS R01 EY022305NEI NIH HHS R01 EY022891NEI NIH HHS R01 EY023242NEI NIH HHS R01 EY027004NEI NIH HHS R01 EY031424NEI NIH HHS R21 EY028671
Abstract
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates.
Indexed as
Asian PeopleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeGlaucoma, Open-AngleHumansPolymorphism, Single NucleotideWhite People
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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.