ArticleNature genetics2014
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
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In one paragraph
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 139 papers, 10 of them syntheses that pooled it.
0numbers the graph read from it
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139citing papers in PubMed, 10 pooled it
21.6field-weighted citation impact, top 1% of its field
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Who cites it
139 citing papers in PubMed, 10 syntheses or guidelines pooled it, 245 citations in OpenAlex.
- Glaucoma Genetic Risk Scores in the Million Veteran Program.Ophthalmology · 2022Pooled 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
- Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.Nature genetics · 2018Pooled it
- Genetic associations for keratoconus: a systematic review and meta-analysis.Scientific reports · 2017Pooled it
- Association of WDR36 polymorphisms with primary open angle glaucoma: A systematic review and meta-analysis.Medicine · 2017Pooled it
- New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.Human molecular genetics · 2017Pooled it
- Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.Nature genetics · 2016Pooled it
- Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.Nature genetics · 2016Pooled it
- Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.Nature communications · 2014Pooled it
- Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.Human genetics · 2018Trial
- 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
- Tissue-Specific Antioxidant Capacity in Primary Open-Angle Glaucoma Patients.Investigative ophthalmology & visual science · 2026Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.Research square · 2026Article
- Article
- Multifaceted roles of fibronectin type III domain containing 3B (FNDC3B) in cell biology and signaling.Frontiers in molecular biosciences · 2026Review
- Exploring the role of VAV2 rare variants in primary open-angle glaucoma: genetic insights and pathophysiological mechanisms.Science China. Life sciences · 2026Article
- Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.medRxiv : the preprint server for health sciences · 2025Article
79 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
94 authors at 20 institutions in 10 countries.
Pirro G Hysi *Department of Twin Research and Genetic Epidemiology, King's College London, UK.
Ching-Yu Cheng *Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Henriët Springelkamp *Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Stuart Macgregor *Statistical Genetics, QIMR Berghofer Medical Research Institute Royal Brisbane Hospital, Brisbane, Australia 4029.
Jessica N Cooke Bailey *Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA.
Robert Wojciechowski *Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health and, Baltimore, MD, USA.
Veronique VitartMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh.
Abhishek NagDepartment of Twin Research and Genetic Epidemiology, King's College London, UK.
Alex W HewittCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Australia.
René HöhnDepartment of Ophthalmology, University Medical Center Mainz, Mainz, Germany.
Cristina VenturiniDepartment of Twin Research and Genetic Epidemiology, King's College London, UK.
Alireza MirshahiDepartment of Ophthalmology, University Medical Center Mainz, Mainz, Germany.
Wishal D RamdasDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Gudmar ThorleifssondeCODE/Amgen, 101 Reykjavik, Iceland.
Eranga VithanaSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Chiea-Chuen KhorDepartment of Ophthalmology, National University of Singapore and National University Health System, Singapore.
Arni B StefanssonEye Clinic, 105 Reykjavik, Iceland.
Jiemin LiaoSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Jonathan L HainesDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA.
Najaf AminDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Ya Xing WangBeijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China 100730.
Philipp S WildDepartment of Internal Medicine II, University Medical Center Mainz, Mainz, Germany.
Ayse B OzelDepartment of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Jun Z LiDepartment of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Brian W FleckNHS Princess Alexandra Eye Pavilion, Edinburgh, UK.
Tanja ZellerClinic for General and Interventional Cardiology, University Heart Center Hamburg, Germany.
Sandra E StaffieriCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Australia.
Yik-Ying TeoSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore.
Gabriel Cuellar-PartidaStatistical Genetics, QIMR Berghofer Medical Research Institute Royal Brisbane Hospital, Brisbane, Australia 4029.
Xiaoyan LuoDuke University, Duke Eye Center, Durham, NC, USA.
R Rand AllinghamDepartment of Ophthalmology, Duke University Medical Center, Durham, NC, USA.
Julia E RichardsDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Andrea SenftInstitute of Medical Biometry and Statistics, University Hospital Schleswig-Holstein, Lübeck, Germany.
Lennart C KarssenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Yingfeng ZhengSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Céline BellenguezInserm, UMR774, Lille, France.
Liang XuBeijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China 100730.
Adriana I IglesiasDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
James F WilsonCentre for Population Health Sciences, University of Edinburgh Medical School, Edinburgh, UK.
Jae H KangChanning Division of Network Medicine, Harvard Medical School, Boston, MA, USA.
Elisabeth M van LeeuwenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Vesteinn JonssonDepartment of Ophthalmology, Landspitali National University Hospital, Reykjavik, Iceland.
Unnur ThorsteinsdottirdeCODE/Amgen, 101 Reykjavik, Iceland.
Dominiek D G DesprietDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Sarah EnnisHuman Genetics & Genomic Medicine, Faulty of Medicine, University of Southampton, UK.
Sayoko E MoroiDepartment of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA.
Nicholas G MartinGenetic Epidemiology, QIMR Berghofer Medical Research Institute Royal Brisbane Hospital, Brisbane, Australia.
Nomdo M JansoniusDepartment of Ophthalmology, University Medical Center Groningen, the Netherlands.
Seyhan YazarCentre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia.
E-Shyong TaiSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore.
Philippe AmouyelInstitute of Medical Biometry and Statistics, University Hospital Schleswig-Holstein, Lübeck, Germany.
James KirwanDepartment of Ophthalmology, Portsmouth Hospitals NHS Trust, Portsmouth, UK.
Leonieke M E van KoolwijkDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Michael A HauserDepartment of Ophthalmology, Duke University Medical Center, Durham, NC, USA.
Fridbert JonassonFaculty of Medicine, University of Iceland, Reykjavik, Iceland.
Paul LeoThe University of Queensland, Diamantina Institute, Woollongabba, Australia.
Stephanie J LoomisDept. Ophthalmology Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
Rhys FogartyDepartment of Ophthalmology, Flinders University, Adelaide, Australia.
Fernando RivadeneiraDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Lisa KearnsCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Australia.
Karl J LacknerInstitute of Clinical Chemistry and Laboratory Medicine, Mainz, Germany.
Paulus T V M de JongNetherlands Institute for Neuroscience, Amsterdam, the Netherlands.
Claire L SimpsonNational Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA.
Craig E PennellSchool of Women's and Infants' Health, The University of Western Australia, Perth, Australia.
Ben A OostraDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
André G UitterlindenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Seang-Mei SawSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Andrew J LoteryClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, UK.
Joan E Bailey-WilsonNational Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA.
Albert HofmanDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Johannes R VingerlingDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Cécilia MaubaretUniv. Bordeaux, ISPED, Bordeaux, France.
Norbert PfeifferDepartment of Ophthalmology, University Medical Center Mainz, Mainz, Germany.
Roger C W WolfsDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Hans G LemijGlaucoma Service, the Rotterdam Eye Hospital, Rotterdam, the Netherlands.
Terri L YoungDuke University, Duke Eye Center, Durham, NC, USA.
Louis R PasqualeChanning Division of Network Medicine, Harvard Medical School, Boston, MA, USA.
Cécile DelcourtUniv. Bordeaux, ISPED, Bordeaux, France.
Timothy D SpectorDepartment of Twin Research and Genetic Epidemiology, King's College London, UK.
Caroline C W KlaverDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Kerrin S SmallDepartment of Twin Research and Genetic Epidemiology, King's College London, UK.
Kathryn P BurdonDepartment of Ophthalmology, Flinders University, Adelaide, Australia.
Kari StefanssondeCODE/Amgen, 101 Reykjavik, Iceland.
Tien-Yin WongSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
BMES GWAS Group
NEIGHBORHOOD Consortium
Wellcome Trust Case Control Consortium 2
Ananth ViswanathanNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
David A MackeyCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Australia.
Jamie E CraigDepartment of Ophthalmology, Flinders University, Adelaide, Australia.
Janey L WiggsDept. Ophthalmology Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Christopher J HammondDepartment of Twin Research and Genetic Epidemiology, King's College London, UK.
Tin AungSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Erasmus MC · NLNational University of Singapore · SGKing's College London · GBdeCODE Genetics (Iceland) · ISMassachusetts Eye and Ear Infirmary · USNational Institutes of Health · USBeijing Tongren Hospital · CNJohannes Gutenberg University Mainz · DELions Eye Institute · AUDuke University · USInserm · FRQIMR Berghofer Medical Research Institute · AUUniversité de Bordeaux · FRUniversity of Michigan · USFlinders University · AUHarvard University · USNetherlands Institute for Neuroscience · NLUniversität Hamburg · DECentre for Eye Research Australia · AUMoorfields Eye Hospital NHS Foundation Trust · GB
Funding
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Eric A Pierce · 2002 to 2026
$15.1MGenetic Epidemiology of Complex TraitsZIAHG200327 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BAILEY-WILSON, JOAN ELLEN · 2009 to 2022
$10.5MGene-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
$7.9MAqueous Humor Dynamic Components that Determine Intraocular Pressure VarianceR01EY022124 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MOROI, SAYOKO E · 2012 to 2022
$3.6MMolecular 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
$776kChief Scientist Office CZB/4/438Chief Scientist Office CZB/4/710Department of Health SRF/01/010Medical Research Council MC_PC_U127561128NEI NIH HHS K08 EY022943NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY015473NEI NIH HHS R01 EY022124NEI NIH HHS R01 EY022305NEI NIH HHS R01 EY023512NHGRI NIH HHS U01 HG004728
Abstract
Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 × 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 × 10(-11) for rs2472493 near ABCA1 and P = 6.39 × 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 × 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG.
Indexed as
Genome-Wide Association StudyABO Blood-Group SystemAdultAgedAged, 80 and overATP Binding Cassette Transporter 1Chromosomes, Human, Pair 11Chromosomes, Human, Pair 3Chromosomes, Human, Pair 9Cohort StudiesFemaleFibronectinsGenetic LociGenetic Predisposition to DiseaseGenotypeGlaucomaABCA1 protein, humanABO Blood-Group SystemATP Binding Cassette Transporter 1FibronectinsFNDC3B protein, human
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