SynthesisHuman molecular genetics2017
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.
Open access · bronzeAbstract readMeta-Analysis
In one paragraph
Synthesis in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 9 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
99citing papers in PubMed, 9 pooled it
14.6field-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
99 citing papers in PubMed, 9 syntheses or guidelines pooled it, 188 citations in OpenAlex.
- Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.Cell reports. Medicine · 2024Pooled it
- Phenotypic and Genetic Links between Body Fat Measurements and Primary Open-Angle Glaucoma.International journal of molecular sciences · 2023Pooled it
- Glaucoma Genetic Risk Scores in the Million Veteran Program.Ophthalmology · 2022Pooled it
- Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.Nature communications · 2021Pooled it
- Association of Glaucoma Risk Genes with Retinal Nerve Fiber Layer in a Multi-ethnic Asian Population: The Singapore Epidemiology of Eye Diseases Study.Investigative ophthalmology & visual science · 2020Pooled it
- Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.Communications biology · 2019Pooled it
- A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.Nature communications · 2018Pooled it
- Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.Nature genetics · 2018Pooled it
- Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.Nature communications · 2018Pooled it
- A Primary Open-Angle Glaucoma Locus Near Transcription FactorOphthalmology science · 2026Article
- Transcending genome-wide association studies to create useful multi-omic views of glaucoma.Progress in retinal and eye research · 2026Review
- Genetic Architecture of Trans-Laminar Cribrosa Pressure Difference and Primary Open-Angle Glaucoma.Investigative ophthalmology & visual science · 2026Article
- Variant-to-gene mapping identifiesbioRxiv : the preprint server for biology · 2026Article
- Single-cell atlas of the transcriptome and chromatin accessibility in the human retina.Nature genetics · 2026Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.Research square · 2026Article
- Article
- Exploring the role of VAV2 rare variants in primary open-angle glaucoma: genetic insights and pathophysiological mechanisms.Science China. Life sciences · 2026Article
- Multi-omics Mendelian randomization analysis identifies SPATA20 as a cross-omic target in primary open angle glaucoma.International journal of ophthalmology · 2026Article
- Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.medRxiv : the preprint server for health sciences · 2025Article
39 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
84 authors at 20 institutions in 8 countries.
Henriët SpringelkampDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Adriana I IglesiasDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Aniket MishraStatistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia.
René HöhnDepartment of Ophthalmology, Inselspital, University Hospital Bern, University of Bern, Bern, Switzerland.
Robert WojciechowskiComputational and Statistical Genomics Branch, National Human Genome Research Institute (NIH), Baltimore, MD, USA.
Anthony P KhawajaNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
Abhishek NagDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Ya Xing WangBeijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Jie Jin WangCentre for Vision Research, Department of Ophthalmology and Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
Gabriel Cuellar-PartidaStatistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia.
Jane GibsonCentre for Biological Sciences, Faculty of Natural and Environmental Sciences, University of Southampton, Southampton, UK.
Jessica N Cooke BaileyDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA.
Eranga N VithanaSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Puya GharahkhaniStatistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia.
Thibaud BoutinMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Wishal D RamdasDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Tanja ZellerClinic for General and Interventional Cardiology, University Heart Center Hamburg, Hamburg, Germany.
Robert N LubenDepartment of Public Health and Primary Care, Institute of Public Health, University of Cambridge School of Clinical Medicine, Cambridge, UK.
Ekaterina Yonova-DoingDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Ananth C ViswanathanNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
Seyhan YazarCentre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia.
Angela J CreeClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Jonathan L HainesDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA.
Jia Yu KohSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Emmanuelle SouzeauDepartment of Ophthalmology, Flinders University, Adelaide, Australia.
James F WilsonMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Najaf AminDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Christian MüllerClinic for General and Interventional Cardiology, University Heart Center Hamburg, Hamburg, Germany.
Cristina VenturiniDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Lisa S KearnsCentre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Jae Hee KangDivision of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
NEIGHBORHOOD Consortium
Yih Chung ThamSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Tiger ZhouDepartment of Ophthalmology, Flinders University, Adelaide, Australia.
Elisabeth M van LeeuwenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Stefan NickelsDepartment of Ophthalmology, University Medical Center Mainz, Mainz, Germany.
Paul SanfilippoCentre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia.
Jiemin LiaoSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Herma van der LindeDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
Wanting ZhaoSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Leonieke M E van KoolwijkDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Li ZhengSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Fernando RivadeneiraDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Mani Baskaran
Sven J van der LeeDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Shamira PereraSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Paulus T V M de JongDepartment of Ophthalmology, Academic Medical Center, Amsterdam, the Netherlands.
Ben A OostraDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
André G UitterlindenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Qiao FanSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Albert HofmanDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
E-Shyong TaiDuke-National University of Singapore Graduate Medical School, Singapore, Singapore.
Johannes R VingerlingDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Xueling SimSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.
Roger C W WolfsDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Yik Ying TeoSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.
Hans G LemijGlaucoma Service, The Rotterdam Eye Hospital, Rotterdam, the Netherlands.
Chiea Chuen KhorSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Rob WillemsenDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
Karl J LacknerInstitute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany.
Tin AungSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Nomdo M JansoniusDepartment of Ophthalmology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Grant MontgomeryDepartment of Molecular Epidemiology, Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia.
Philipp S WildPreventive Cardiology and Preventive Medicine/Center for Cardiology, University Medical Center Mainz, Mainz, Germany.
Terri L YoungDepartment of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
Kathryn P BurdonSchool of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Australia.
Pirro G HysiDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Louis R PasqualeDivision of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Tien Yin WongSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Caroline C W KlaverDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Alex W HewittCentre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Jost B JonasDepartment of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University of Heidelberg, Heidelberg, Germany.
Paul MitchellCentre for Vision Research, Department of Ophthalmology and Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
Andrew J LoteryClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Paul J FosterNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
Veronique VitartMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Norbert PfeifferDepartment of Ophthalmology, University Medical Center Mainz, Mainz, Germany.
Jamie E CraigDepartment of Ophthalmology, Flinders University, Adelaide, Australia.
David A MackeyCentre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia.
Christopher J HammondDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Janey L WiggsDepartment of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA and.
Ching-Yu Cheng
Cornelia M van DuijnDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Stuart MacGregorStatistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia.
National University of Singapore · SGErasmus MC · NLJohannes Gutenberg University Mainz · DELions Eye Institute · AUSingapore National Eye Center · SGMoorfields Eye Hospital NHS Foundation Trust · GBQIMR Berghofer Medical Research Institute · AUUniversity of Tasmania · AUBrigham and Women's Hospital · USFlinders University · AUKing's College London · GBThe University of Sydney · AUCase Western Reserve University · USInstitute of Genetics and Cancer · GBJohns Hopkins University · USMassachusetts Eye and Ear Infirmary · USNetherlands Institute for Neuroscience · NLUniversität Hamburg · DEUniversity Medical Center Groningen · NLUniversity of Southampton · GB
Funding
Long Term Multidisciplinary Study of Cancer in Women: The Nurses Health StudyUM1CA186107 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIASSEN, A. HEATHER, STAMPFER, MEIR · 2014 to 2023
$22.3MP30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Eric A Pierce · 2002 to 2026
$15.1MCancer Epidemiology Cohort in Male Health ProfessionalsUM1CA167552 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI WILLETT, WALTER C. · 2012 to 2016
$11.5MGene-Environment Interactions in GlaucomaR01EY015473 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI PASQUALE, LOUIS ROBERT · 2005 to 2021
$8.3MThe Molecular Genetics of High MyopiaR01EY014685 · NEI · UNIVERSITY OF WISCONSIN-MADISON · PI YOUNG, TERRI LOIS · 2003 to 2017
$8.1MThe NEIGHBORHOOD: POAG Heritable Overall Operational DatabaseR01EY022305 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI WIGGS, JANEY L · 2012 to 2025
$7.9MInternational Collaborative Twin Study of Refractive and Glaucoma EndophenotypesR01EY018246 · NEI · DUKE UNIVERSITY · PI YOUNG, TERRI LOIS · 2007 to 2009
$1.8MMolecular Genetics of Norma Tension GlaucomaR01EY023512 · NEI · UNIVERSITY OF IOWA · PI FINGERT, JOHN H, MULLINS, ROBERT FOSTER · 2014 to 2017
$1.8MGenes and Environment Initiative in GlaucomaU01HG004728 · NHGRI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI PASQUALE, LOUIS ROBERT · 2008 to 2009
$1.0MGene-environment-wide interaction studies of ocular refractionK08EY022943 · NEI · JOHNS HOPKINS UNIVERSITY · PI WOJCIECHOWSKI, ROBERT J. · 2013 to 2017
$776kDepartment of Health SRF/01/010NCI NIH HHS UM1 CA167552NCI NIH HHS UM1 CA186107NEI NIH HHS K08 EY022943NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY014685NEI NIH HHS R01 EY015473NEI NIH HHS R01 EY018246NEI NIH HHS R01 EY022305NEI NIH HHS R01 EY023512NHGRI NIH HHS U01 HG004728Wellcome Trust 076113Wellcome Trust 085475/B/08/ZWellcome Trust 085475/Z/08/Z
Abstract
Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk. We conducted a genome-wide association meta-analysis of IOP and optic disc parameters and validated our findings in multiple sets of POAG cases and controls. Using imputation to the 1000 genomes (1000G) reference set, we identified 9 new genomic regions associated with vertical cup-disc ratio (VCDR) and 1 new region associated with IOP. Additionally, we found 5 novel loci for optic nerve cup area and 6 for disc area. Previously it was assumed that genetic variation influenced POAG either through IOP or via changes to the optic nerve head; here we present evidence that some genomic regions affect both IOP and the disc parameters. We characterized the effect of the novel loci through pathway analysis and found that pathways involved are not entirely distinct as assumed so far. Further, we identified a novel association between CDKN1A and POAG. Using a zebrafish model we show that six6b (associated with POAG and optic nerve head variation) alters the expression of cdkn1a. In summary, we have identified several novel genes influencing the major clinical risk predictors of POAG and showed that genetic variation in CDKN1A is important in POAG risk.
Indexed as
Cyclin-Dependent Kinase Inhibitor p21FemaleGenome, HumanGenome-Wide Association StudyGlaucoma, Open-AngleHomeodomain ProteinsHumansIntraocular PressureMaleMiddle AgedOptic DiskOptic Nerve DiseasesTonometry, OcularZebrafish ProteinsCDKN1A protein, humanCyclin-Dependent Kinase Inhibitor p21Homeodomain ProteinsSix7 protein, zebrafishZebrafish Proteins
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
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.