ArticleScientific reports2018
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma.
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Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 4 of them syntheses that pooled it.
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24citing papers in PubMed, 4 pooled it
5.6field-weighted citation impact, top 4% of its field
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Who cites it
24 citing papers in PubMed, 4 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- 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
- Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.Communications biology · 2020Pooled it
- Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.Communications biology · 2019Pooled it
- MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.Scientific reports · 2021Trial
- A Primary Open-Angle Glaucoma Locus Near Transcription FactorOphthalmology science · 2026Article
- Time-Dependent Glucocorticoid-Induced Transcriptomic Changes in Human Trabecular Meshwork and Schlemm's Canal Cells.Investigative ophthalmology & visual science · 2026Article
- Time-dependent Glucocorticoid-Induced Transcriptomic Changes in Human Trabecular Meshwork and Schlemm's Canal.bioRxiv : the preprint server for biology · 2026Article
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- Human cytomegalovirus infection coopts chromatin organization to diminish TEAD1 transcription factor activity.bioRxiv : the preprint server for biology · 2025Article
- Structural framework to address variant-gene relationship in primary open-angle glaucoma.Vision research · 2025Review
- Article
- Genetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma.Scientific reports · 2022Article
- MicroRNAs as biomarkers in glaucoma and potential therapeutic targets.Neural regeneration research · 2022Review
- The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities-A review.Clinical & experimental ophthalmology · 2022Review
- Article
- MicroRNAs in the aqueous humor of patients with different types of glaucoma.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2021Article
- Genetic background modifies vulnerability to glaucoma-related phenotypes inDisease models & mechanisms · 2021Article
- Lack of Association Between Polymorphisms inFrontiers in genetics · 2021Article
- Transcriptomic stratification of late-onset Alzheimer's cases reveals novel genetic modifiers of disease pathology.PLoS genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
40 authors at 20 institutions in 3 countries.
Puya GharahkhaniQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. Puya.Gharahkhani@qimrberghofer.edu.au.ORCID 0000-0002-4203-5952
Kathryn P BurdonUniversity of Tasmania, Hobart, Tasmania, Australia.ORCID 0000-0001-8217-1249
Jessica N Cooke BaileyPopulation and Quantitative Health Sciences, Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH, USA.ORCID 0000-0002-4001-8702
Alex W HewittUniversity of Tasmania, Hobart, Tasmania, Australia.ORCID 0000-0002-5123-5999
Matthew H LawQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0002-4303-8821
Louis R PasqualeDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.ORCID 0000-0002-5835-3496
Jae H KangChanning Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0003-4812-0557
Jonathan L HainesPopulation and Quantitative Health Sciences, Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
Emmanuelle SouzeauDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.ORCID 0000-0002-2015-6577
Tiger ZhouDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Owen M SiggsDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.ORCID 0000-0003-2840-4851
John LandersDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Mona AwadallaDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Shiwani SharmaDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Richard A MillsDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Bronwyn RidgeDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
David LynnSouth Australian Health & Medical Research Institute, School of Medicine, Flinders University, Adelaide, South Australia, Australia.
Robert CassonSouth Australian Institute of Ophthalmology, University of Adelaide, Adelaide, South Australia, Australia.
Stuart L GrahamOphthalmology and Vision Science, Macquarie University, Sydney, New South Wales, Australia.
Ivan GoldbergDepartment of Ophthalmology, University of Sydney, Sydney, Australia.
Andrew WhiteDepartment of Ophthalmology, University of Sydney, Sydney, Australia.
Paul R HealeyDepartment of Ophthalmology, University of Sydney, Sydney, Australia.
John GriggDepartment of Ophthalmology, University of Sydney, Sydney, Australia.
Mitchell LawlorDepartment of Ophthalmology, University of Sydney, Sydney, Australia.
Paul MitchellCentre for Vision Research, The Westmead Institute for Medical Research, University of Sydney, Westmead, NSW, Australia.
Jonathan RuddleCentre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Michael CooteCentre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Mark WallandCentre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Stephen BestDepartment of Ophthalmology, University of Auckland, Auckland, New Zealand.
Andrea VincentDepartment of Ophthalmology, University of Auckland, Auckland, New Zealand.
Jesse GaleDepartment of Ophthalmology, University of Otago, Dunedin, Otago, New Zealand.
Graham RadfordSmithQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
David C WhitemanQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Grant W MontgomeryQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
David A MackeyUniversity of Tasmania, Hobart, Tasmania, Australia.
Janey L WiggsDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
Stuart MacGregorQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Jamie E CraigDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia. jamie.craig@flinders.edu.au.
NEIGHBORHOOD consortium
Flinders University · AUThe University of Sydney · AUQIMR Berghofer Medical Research Institute · AUThe University of Melbourne · AUUniversity of Miami · USUniversity of Michigan · USBrigham and Women's Hospital · USCase Western Reserve University · USDuke Medical Center · USStanford University · USThe University of Queensland · AUUniversity of Auckland · NZUniversity of Pittsburgh · USUniversity of Tasmania · AUAugusta University · USHarvard University · USJohns Hopkins University · USLions Eye Institute · AUMacquarie University · AUMarshfield Clinic · US
Funding
Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI TWOROGER, SHELLEY S · 2000 to 2019
$77.8MInstitutional Clinical and Translational Science AwardUL1TR000427 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$32.2MWomen's Health Study: Continued Follow-upR01CA047988 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI BURING, JULIE E., LEE, I-MIN · 1991 to 2014
$28.2MLong 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
$22.3MA 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
$12.2MCancer Epidemiology Cohort in Male Health ProfessionalsUM1CA167552 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI WILLETT, WALTER C. · 2012 to 2016
$11.5MBIOCHEMICAL MARKERS IN THE NURSES'HEALTH STUDY COHORTR01CA049449 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI HANKINSON, SUSAN E · 1989 to 2008
$11.3MNCATS NIH HHS UL1 TR000427NCI NIH HHS P01 CA087969NCI NIH HHS R01 CA001833NCI NIH HHS R01 CA047988NCI NIH HHS R01 CA049449NCI NIH HHS R01 CA131332NCI NIH HHS R01 CA136725NCI NIH HHS U01 CA049449NCI NIH HHS UM1 CA167552NCI NIH HHS UM1 CA186107NCRR 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 R03 EY015682NEI NIH HHS R21 EY028671NEI NIH HHS R56 EY011671NEI NIH HHS U10 EY012118NHGRI NIH HHS U01 HG004424NHGRI NIH HHS U01 HG004446NHGRI NIH HHS U01 HG004608NHGRI NIH HHS U01 HG004728NHGRI NIH HHS U01 HG006389NHLBI NIH HHS P01 HL073042NHLBI NIH HHS R01 HL043851NHLBI NIH HHS R01 HL073389NHLBI NIH HHS R01 HL080467
Abstract
Open-angle glaucoma (OAG) is a major cause of blindness worldwide. To identify new risk loci for OAG, we performed a genome-wide association study in 3,071 OAG cases and 6,750 unscreened controls, and meta-analysed the results with GWAS data for intraocular pressure (IOP) and optic disc parameters (the overall meta-analysis sample size varying between 32,000 to 48,000 participants), which are glaucoma-related traits. We identified and independently validated four novel genome-wide significant associations within or near MYOF and CYP26A1, LINC02052 and CRYGS, LMX1B, and LMO7 using single variant tests, one additional locus (C9) using gene-based tests, and two genetic pathways - "response to fluid shear stress" and "abnormal retina morphology" - in pathway-based tests. Interestingly, some of the new risk loci contribute to risk of other genetically-correlated eye diseases including myopia and age-related macular degeneration. To our knowledge, this study is the first integrative study to combine genetic data from OAG and its correlated traits to identify new risk variants and genetic pathways, highlighting the future potential of combining genetic data from genetically-correlated eye traits for the purpose of gene discovery and mapping.
Indexed as
AgedCalcium-Binding ProteinsCase-Control StudiesEndophenotypesFemalegamma-CrystallinsGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeGlaucomaGlaucoma, Open-AngleHumansIntraocular PressureLIM Domain ProteinsLIM-Homeodomain ProteinsMaleCalcium-Binding ProteinsCRYGS protein, humanCYP26A1 protein, humangamma-CrystallinsLIM Domain ProteinsLIM homeobox transcription factor 1 betaLIM-Homeodomain ProteinsLMO7 protein, humanMembrane ProteinsMuscle ProteinsMYOF protein, humanRetinoic Acid 4-HydroxylaseTranscription Factors
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