ArticleNature genetics2014
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
Open access · greenAbstract readMulticenter Study
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 130 papers, 11 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
130citing papers in PubMed, 11 pooled it
17.4field-weighted citation impact, top 1% of its field
What it found
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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
130 citing papers in PubMed, 11 syntheses or guidelines pooled it, 229 citations in OpenAlex.
- GWAS for primary angle-closure glaucoma identifies loci related to ocular biometry and morphology.Nature communications · 2025Pooled it
- Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.Cell reports. Medicine · 2024Pooled 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
- New insight into human sweet taste: a genome-wide association study of the perception and intake of sweet substances.The American journal of clinical nutrition · 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
- 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
- Effects of Brimonidine and Timolol on the Progression of Visual Field Defects in Open-angle Glaucoma: A Single-center Randomized Trial.Journal of glaucoma · 2019Trial
- Integrative Multi-Omics Analysis Prioritizes Candidate Therapeutic Targets for Primary Open-Angle Glaucoma.International journal of molecular sciences · 2026Article
- Variant-to-gene mapping identifiesbioRxiv : the preprint server for biology · 2026Article
- Time-Dependent Glucocorticoid-Induced Transcriptomic Changes in Human Trabecular Meshwork and Schlemm's Canal Cells.Investigative ophthalmology & visual science · 2026Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.Research square · 2026Article
- Genetic Architecture and Clinical Phenotypes of Primary Open-Angle Glaucoma: An Updated Review of Mendelian Genes, GWAS Loci, and Polygenic Risk.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Time-dependent Glucocorticoid-Induced Transcriptomic Changes in Human Trabecular Meshwork and Schlemm's Canal.bioRxiv : the preprint server for biology · 2026Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.medRxiv : the preprint server for health sciences · 2025Article
- Exome and Genome Sequencing Reveals Novel Variants for Severe Diabetic Retinopathy in Type 1 Diabetes.Investigative ophthalmology & visual science · 2025Article
70 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
42 authors at 16 institutions in 4 countries.
Puya Gharahkhani *QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Kathryn P Burdon *Department of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia.
Rhys FogartyDepartment of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia.
Shiwani SharmaDepartment of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia.
Alex W HewittCentre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Sarah MartinDepartment of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia.
Matthew H LawQIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Katie CreminUniversity of Queensland Diamantina Institute, Brisbane, QLD 4102, Australia.
Jessica N Cooke BaileyCenter for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Stephanie J LoomisDepartment of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
Louis R PasqualeDepartment of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
Jonathan L HainesCenter for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Michael A HauserDepartment of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA.
Ananth C ViswanathanNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
Peter McGuffinMRC Social Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, King's College, De Crespigny Park, London, UK.
Fotis TopouzisDepartment of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki, Greece.
Paul J FosterNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
Stuart L GrahamOphthalmology and Vision Science, Macquarie University, Sydney, New South Wales, Australia.
Robert J CassonSouth Australian Institute of Ophthalmology, University of Adelaide, Adelaide, South Australia, Australia.
Mark ChehadeSouth Australian Institute of Ophthalmology, University of Adelaide, Adelaide, South Australia, Australia.
Andrew J WhiteCentre for Vision Research, Westmead Millennium Institute, University of Sydney, Westmead, NSW 2145, Australia.
Tiger ZhouDepartment of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia.
Emmanuelle SouzeauDepartment of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia.
John LandersDepartment of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia.
Jude T FitzgeraldDepartment of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia.
Sonja KlebeDepartment of Anatomical Pathology, Flinders University, Flinders Medical Centre, South Australia.
Jonathan B RuddleCentre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Ivan GoldbergDepartment of Ophthalmology, University of Sydney, Sydney Eye Hospital, Sydney, Australia.
Paul R HealeyCentre for Vision Research, Westmead Millennium Institute, University of Sydney, Westmead, NSW 2145, Australia.
Wellcome Trust Case Control Consortium 2, NEIGHBORHOOD consortium
Richard A MillsDepartment of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia.
Jie Jin WangCentre for Vision Research, Westmead Millennium Institute, University of Sydney, Westmead, NSW 2145, Australia.
Grant W MontgomeryQIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Graham RadfordSmithQIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
David C WhitemanQIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Matthew A BrownUniversity of Queensland Diamantina Institute, Brisbane, QLD 4102, Australia.
Janey L WiggsDepartment of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
David A MackeyMenzies Research Institute Tasmania, University of Tasmania, Hobart, TAS, 7000, Australia.
Paul MitchellCentre for Vision Research, Westmead Millennium Institute, University of Sydney, Westmead, NSW 2145, Australia.
Stuart MacGregorQIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Jamie E CraigDepartment of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia.
Flinders University · AUQIMR Berghofer Medical Research Institute · AUThe University of Sydney · AUThe University of Queensland · AUCenter for Human Genetics · USMassachusetts Eye and Ear Infirmary · USNational Health Service · GBThe University of Adelaide · AUThe University of Melbourne · AUAristotle University of Thessaloniki · GRBrigham and Women's Hospital · USDuke Medical Center · USKing's College London · GBLions Eye Institute · AUMacquarie University · AUUniversity of Tasmania · AU
Funding
Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI TWOROGER, SHELLEY S · 2000 to 2019
$77.8MValidity of Diet and Activity Measures in WomenP01CA055075 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI WILLETT, WALTER C. · 1991 to 2009
$41.8MA Center for GEI Association StudiesU01HG004424 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY · 2007 to 2010
$21.4MStructural dynamics of developing auditory circuitsP20RR015574 · NCRR · WEST VIRGINIA UNIVERSITY · PI LEWIS, JAMES W · 2000 to 2009
$18.1MNovel Glaucoma Diagnostics for Structure and Function - Renewal - 1R01EY013178 · NEI · WILLS EYE HEALTH SYSTEM · PI Joel S Schuman · 2000 to 2026
$17.5MP30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Eric A Pierce · 2002 to 2026
$15.1MSNP discoveryP01HL073042 · NHLBI · DUKE UNIVERSITY · PI NEVINS, JOSEPH R · 2002 to 2006
$13.5MUnifying Genetics Epidemiology of Macular DegenerationR01EY012118 · NEI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI AGARWAL, ANITA, HAINES, JONATHAN L · 2006 to 2015
$12.2MBIOCHEMICAL MARKERS IN THE NURSES'HEALTH STUDY COHORTR01CA049449 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI HANKINSON, SUSAN E · 1989 to 2008
$11.3MDiagnostic Innovations in Glaucoma:Structural AssessmentR01EY011008 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ZANGWILL, LINDA M · 1995 to 2015
$8.7MGene-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
$7.9MMedical Research Council G0401527Medical Research Council G1000143Medical Research Council MR/K006584/1NCI NIH HHS P01 CA055075NCI NIH HHS P01 CA087969NCI NIH HHS R01 CA001833NCI NIH HHS R01 CA049449NCI NIH HHS R01 CA136725NCI NIH HHS U01 CA049449NCRR NIH HHS P20 RR015574NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY008208NEI NIH HHS R01 EY009580NEI NIH HHS R01 EY009847NEI NIH HHS R01 EY010886NEI NIH HHS R01 EY011008NEI NIH HHS R01 EY011671NEI NIH HHS R01 EY012118NEI NIH HHS R01 EY013178NEI NIH HHS R01 EY013315NEI NIH HHS R01 EY015473NEI NIH HHS R01 EY015543NEI NIH HHS R01 EY015872NEI NIH HHS R01 EY018246NEI NIH HHS R01 EY018660NEI NIH HHS R01 EY019126NEI NIH HHS R01 EY022305NEI NIH HHS R01 EY023512NEI NIH HHS R01 EY023646NEI NIH HHS R03 EY015682NEI NIH HHS R56 EY011671NEI NIH HHS T32 EY007157NEI NIH HHS T32 EY021453NEI NIH HHS U10 EY012118NHGRI NIH HHS HHSN268200782096CNHGRI NIH HHS U01 HG004424NHGRI NIH HHS U01 HG004446NHGRI NIH HHS U01 HG004608NHGRI NIH HHS U01 HG004728NHLBI NIH HHS P01 HL073042NHLBI NIH HHS R01 HL073389Wellcome Trust 084620
Abstract
Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 controls. We investigated the association of the top SNPs from the discovery stage in two Australian replication cohorts (932 cases and 6,862 controls total) and two US replication cohorts (2,616 cases and 2,634 controls total). Meta-analysis of all cohorts identified three loci newly associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493[G], odds ratio (OR) = 1.31, P = 2.1 × 10(-19)), within AFAP1 (rs4619890[G], OR = 1.20, P = 7.0 × 10(-10)) and within GMDS (rs11969985[G], OR = 1.31, P = 7.7 × 10(-10)). Using RT-PCR and immunolabeling, we show that these genes are expressed within human retina, optic nerve and trabecular meshwork and that ABCA1 and AFAP1 are also expressed in retinal ganglion cells.
Indexed as
Polymorphism, Single NucleotideAgedAged, 80 and overATP Binding Cassette Transporter 1AustraliaCohort StudiesFemaleGene ExpressionGene FrequencyGenetic Predisposition to DiseaseGenotypeGlaucoma, Open-AngleHumansHydro-LyasesImmunoblottingMaleABCA1 protein, humanAFAP1 protein, humanATP Binding Cassette Transporter 1GDPmannose 4,6-dehydrataseHydro-LyasesMicrofilament Proteins
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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.