SynthesisCommunications biology2019
Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.
Open access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in Communications biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 2 pooled it
3.9field-weighted citation impact, top 7% 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.
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 58 citations in OpenAlex.
- A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation.Communications biology · 2024Pooled it
- Comparison of two multi-trait association testing methods and sequence-based fine mapping of six additive QTL in Swiss Large White pigs.BMC genomics · 2023Pooled it
- Elevated dimethylarginine, ATP, cytokines, metabolic remodeling involving tryptophan metabolism and potential microglial inflammation characterize primary open angle glaucoma.Scientific reports · 2021Trial
- A Comprehensive Assessment of the Shared Genetic Architecture between Myopia and Open-Angle Glaucoma.Ophthalmology science · 2026Article
- A Primary Open-Angle Glaucoma Locus Near Transcription FactorOphthalmology science · 2026Article
- Protective Role of Metformin in Glaucoma: Prospective Cohort Study, Meta-Analysis, and Drug-Target Mendelian Randomization.Ophthalmology science · 2026Article
- 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
- Large-Scaled Proteomics Analysis for Glaucoma: Integrated Genetics, Multi-Omics, UK Biobank and Therapeutic Analysis.Investigative ophthalmology & visual science · 2026Article
- Genome-wide association study of quantitative ocular traits, including axial length and central corneal thickness, identifies loci for refractive error in the Korean population.Genes & genomics · 2026Article
- Genomic structural equation Modeling analysis of glaucoma Endophenotypes: investigating genetic architecture and non-intraocular pressure mechanisms.Human molecular genetics · 2025Article
- Leveraging Alzheimer's Disease Omics to Identify Pleiotropic Genes Contributing to Neurodegeneration in Primary Open-Angle Glaucoma.Molecular neurobiology · 2025Article
- Article
- Human cytomegalovirus infection coopts chromatin organization to diminish TEAD1 transcription factor activity.bioRxiv : the preprint server for biology · 2025Article
- Exploring the effect of SGLT2 inhibitors on the risk of primary open-angle glaucoma using Mendelian randomization analysis.Scientific reports · 2025Article
- Association between 91 circulating inflammatory proteins and the risk of glaucoma: A Mendelian randomization study.Scientific reports · 2025Article
- Structural framework to address variant-gene relationship in primary open-angle glaucoma.Vision research · 2025Review
- Associations of human blood metabolome with optic neurodegenerative diseases: a bi-directionally systematic mendelian randomization study.Lipids in health and disease · 2024Article
- GWAS-by-subtraction reveals an IOP-independent component of primary open angle glaucoma.Nature communications · 2024Article
- Genetically Proxied Antidiabetic Drug Target and Primary Open-Angle Glaucoma: A Mendelian Randomization Study.Health science reports · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors at 20 institutions in 11 countries.
Pieter W M Bonnemaijer1Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.ORCID 0000-0001-5154-6765
Elisabeth M van Leeuwen1Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.
Adriana I Iglesias1Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.ORCID 0000-0001-5532-764X
Puya GharahkhaniStatistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia.ORCID 0000-0002-4203-5952
Veronique Vitart6Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID 0000-0002-4991-3797
Anthony P Khawaja7NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.ORCID 0000-0001-6802-8585
Mark Simcoe8Twin Research and Genetic Epidemiology, King's College London, London, UK.ORCID 0000-0003-2432-0810
René HöhnDepartment of Ophthalmology, Inselspital, University Hospital Bern, University of Bern, Bern, Germany.
Angela J Cree11Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Rob P Igo12Department of Ophthalmology, Harvard Medical School, Boston, MA USA.
International Glaucoma Genetics Consortium
NEIGHBORHOOD consortium
UK Biobank Eye and Vision Consortium
Aslihan Gerhold-Ay13Institute of Medical Biostatistics, Epidemiology and Informatics, University Medical Center Mainz, Mainz, Germany.
Stefan Nickels10Department of Ophthalmology, University Medical Center Mainz, Mainz, Germany.ORCID 0000-0003-0415-2354
James F Wilson6Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID 0000-0001-5751-9178
Caroline Hayward6Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID 0000-0002-9405-9550
Thibaud S Boutin6Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID 0000-0003-4754-1675
Ozren Polašek15Faculty of Medicine, University of Split, Split, Croatia.
Tin Aung16Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Chiea Chuen Khor19Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore.ORCID 0000-0002-1128-4729
Najaf Amin2Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.
Andrew J Lotery11Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.ORCID 0000-0001-5541-4305
Janey L Wiggs12Department of Ophthalmology, Harvard Medical School, Boston, MA USA.ORCID 0000-0003-1890-3278
Ching-Yu Cheng16Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.ORCID 0000-0003-0655-885X
Pirro G Hysi8Twin Research and Genetic Epidemiology, King's College London, London, UK.ORCID 0000-0001-5752-2510
Christopher J Hammond8Twin Research and Genetic Epidemiology, King's College London, London, UK.ORCID 0000-0002-3227-2620
Alberta A H J Thiadens1Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.
Stuart MacGregorStatistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia.ORCID 0000-0001-6731-8142
Caroline C W Klaver1Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.ORCID 0000-0002-2355-5258
Cornelia M van Duijn2Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.
UCL Biomedical Research Centre · GBQueen's University Belfast · GBErasmus MC · NLKing's College London · GBUniversity of Southampton · GBHarvard University · USInstitute of Genetics and Cancer · GBJohannes Gutenberg University Mainz · DEMoorfields Eye Hospital NHS Foundation Trust · GBQIMR Berghofer Medical Research Institute · AUUniversity of Bristol · GBUniversity of Edinburgh · GBUniversity of Miami · USUniversity of Michigan · USCardiff University · GBCase Western Reserve University · USdeCODE Genetics (Iceland) · ISGenome Institute of Singapore · SGGreat Ormond Street Hospital · GBIcahn School of Medicine at Mount Sinai · US
Funding
The NEIGHBORHOOD: POAG Heritable Overall Operational DatabaseR01EY022305 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI WIGGS, JANEY L · 2012 to 2025
$7.9MGene Discovery in Familial KeratoconusR01EY023242 · NEI · DUKE UNIVERSITY · PI LIU, YUTAO · 2013 to 2023
$3.4MGenetic Etiologies of Primary Open Angle GlaucomaR01EY015872 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI WIGGS, JANEY L · 2005 to 2009
$3.3MAdmixture Mapping of Glaucoma Genes in African AmericansR01EY019126 · NEI · DUKE UNIVERSITY · PI HAUSER, MICHAEL A · 2008 to 2012
$3.2MIntegrative Data Analysis for Refractive ErrorR01EY024233 · NEI · UNIVERSITY OF PENNSYLVANIA · PI STAMBOLIAN, DWIGHT EDWARD · 2014 to 2016
$1.2MLong Noncoding RNA lncLOXL1 and Exfoliation Syndrome.R21EY028671 · NEI · AUGUSTA UNIVERSITY · PI LIU, YUTAO · 2018 to 2019
$467kArthritis Research UKCancer Research UK 14136Cancer Research UK C864/A14136Chief Scientist Office CZB/4/276Chief Scientist Office CZB/4/710Department of Health CS-2014-14-023Medical Research Council G0401527Medical Research Council G1000143Medical Research Council MC_PC_13048Medical Research Council MR/N003284/1NEI NIH HHS R01 EY015872NEI NIH HHS R01 EY019126NEI NIH HHS R01 EY022305NEI NIH HHS R01 EY023242NEI NIH HHS R01 EY024233NEI NIH HHS R21 EY028671NHGRI NIH HHS HHSN268200782096CWellcome Trust
Abstract
A new avenue of mining published genome-wide association studies includes the joint analysis of related traits. The power of this approach depends on the genetic correlation of traits, which reflects the number of pleiotropic loci, i.e. genetic loci influencing multiple traits. Here, we applied new meta-analyses of optic nerve head (ONH) related traits implicated in primary open-angle glaucoma (POAG); intraocular pressure and central corneal thickness using Haplotype reference consortium imputations. We performed a multi-trait analysis of ONH parameters cup area, disc area and vertical cup-disc ratio. We uncover new variants; rs11158547 in
Indexed as
Genome-Wide Association StudyQuantitative Trait, HeritableQuantitative Trait LociCase-Control StudiesComputational BiologyGene Expression ProfilingGenetic Association StudiesGenetic Predisposition to DiseaseGlaucomaHumansMolecular Sequence AnnotationOptic DiskOptic Nerve DiseasesPolymorphism, Single NucleotideSignal TransductionGenome-wide association studiesOptic nerve diseases
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LicenceCC BY
Read underepoch 390
Registered trials
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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.