SynthesisNature communications2018
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Erratum issuedOpen access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 48 papers, 6 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 6 pooled it
7.9field-weighted citation impact, top 2% 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
48 citing papers in PubMed, 6 syntheses or guidelines pooled it, 96 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
- Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.Communications biology · 2024Pooled it
- A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.Nature communications · 2021Pooled it
- A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.Communications biology · 2021Pooled 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
- Genome-Wide Association Study of Pterygium Versus Pinguecula Identifies Loci Associated with Lesion-Type Divergence.Ophthalmology science · 2026Article
- Microbubble-assisted pLIFU enhances riboflavin delivery and corneal cross-linking in an in vivo rabbit keratoconus-like model.Ultrasonics sonochemistry · 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
- Partially connected neural networks for complex trait prediction: application to human height.Human genetics · 2025Article
- High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.Genomics, proteomics & bioinformatics · 2025Review
- Pilot work of the 10K Chinese People Genomic Diversity Project along the Silk Road suggests a complex east-west admixture landscape and biological adaptations.Science China. Life sciences · 2025Article
- Mussel-InspiredACS omega · 2025Article
- Whole-genome sequencing identifies novel loci for keratoconus and facilitates risk stratification in a Han Chinese population.Eye and vision (London, England) · 2025Article
- Mechanical Strain of Corneal Epithelium Influences the Expression of Genes Implicated in Keratoconus.Investigative ophthalmology & visual science · 2025Article
- Central corneal thickness and the risk of primary open-angle glaucoma: a Mendelian randomisation mediation analysis.The British journal of ophthalmology · 2024Article
- In Search of Mouse Models for Exfoliation Syndrome.American journal of ophthalmology · 2024Article
- Comprehensive Evaluation of the Genetic Basis of Keratoconus: New Perspectives for Clinical Translation.Investigative ophthalmology & visual science · 2024Article
- Genome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations.Cell genomics · 2024Article
- Identification of Keratoconus-Related Phenotypes in Three Ppip5k2 Mouse Models.Investigative ophthalmology & visual science · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
62 authors at 20 institutions in 11 countries.
Adriana I IglesiasDepartment of Ophthalmology, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0001-5532-764X
Aniket MishraUniversity of Bordeaux, Bordeaux Population Health Research Center, INSERM UMR 1219, F-33000, Bordeaux, France.
Veronique VitartInstitute of Genetics and Molecular Medicine, Medical Research Council Human Genetics Unit, University of Edinburgh, EH42XU, Edinburgh, UK.
Yelena BykhovskayaRegenerative Medicine Institute and Department of Surgery, Cedars-Sinai Medical Center, CA 90048, Los Angeles, CA, USA.
René HöhnDepartment of Ophthalmology, University Medical Center Mainz, 55131, Mainz, Germany.
Henriët SpringelkampDepartment of Ophthalmology, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.
Gabriel Cuellar-PartidaStatistical Genetics, QIMR Berghofer Medical Research Institute, QLD 4029, Brisbane, Australia.
Puya GharahkhaniStatistical Genetics, QIMR Berghofer Medical Research Institute, QLD 4029, Brisbane, Australia.ORCID http://orcid.org/0000-0002-4203-5952
Jessica N Cooke BaileyDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, OH 44106, Cleveland, OH, USA.ORCID http://orcid.org/0000-0002-4001-8702
Colin E WilloughbyBiomedical Sciences Research Institute, Ulster University, BT52 1SA, Belfast, Northern Ireland, UK.
Xiaohui LiInstitute for Translational Genomics and Population Sciences and Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90509, CA, USA.ORCID http://orcid.org/0000-0002-5037-3572
Seyhan YazarInstitute of Genetics and Molecular Medicine, Medical Research Council Human Genetics Unit, University of Edinburgh, EH42XU, Edinburgh, UK.
Abhishek NagDepartment of Twin Research and Genetic Epidemiology, King's College London, WC2R 2LS, London, UK.
Anthony P KhawajaDepartment of Public Health and Primary Care, Institute of Public Health, University of Cambridge School of Clinical Medicine, CB2 0SR, Cambridge, UK.ORCID http://orcid.org/0000-0001-6802-8585
Ozren PolašekFaculty of Medicine, University of Split, HR-21000, Split, Croatia.
David SiscovickDepartments of Medicine and Epidemiology and Cardiovascular Health Research Unit, University of Washington, WA 98101, Washington, USA.
Paul MitchellCentre for Vision Research, Department of Ophthalmology and Westmead Institute for Medical Research, University of Sydney, NSW 2145, Sydney, NSW, Australia.
Yih Chung ThamSingapore Eye Research Institute, Singapore National Eye Centre, 168751, Singapore, Singapore.
Jonathan L HainesDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, OH 44106, Cleveland, OH, USA.ORCID http://orcid.org/0000-0002-4351-4728
Lisa S KearnsCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, VIC 3002, East Melbourne, Australia.
Caroline HaywardInstitute of Genetics and Molecular Medicine, Medical Research Council Human Genetics Unit, University of Edinburgh, EH42XU, Edinburgh, UK.ORCID http://orcid.org/0000-0002-9405-9550
Yuan ShiSingapore Eye Research Institute, Singapore National Eye Centre, 168751, Singapore, Singapore.
Elisabeth M van LeeuwenDepartment of Ophthalmology, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.
Kent D TaylorInstitute for Translational Genomics and Population Sciences and Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90509, CA, USA.
Blue Mountains Eye Study—GWAS group
Pieter BonnemaijerDepartment of Ophthalmology, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0001-5154-6765
Jerome I RotterInstitute for Translational Genomics and Population Sciences and Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90509, CA, USA.
Nicholas G MartinDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, QLD 4029, Brisbane, Australia.
Tanja ZellerDepartment of General and Interventional Cardiology, University Heart Center Hamburg, 20251, Hamburg, Germany.
Richard A MillsDepartment of Ophthalmology, Flinders University, SA 5042, Adelaide, Australia.
Emmanuelle SouzeauDepartment of Ophthalmology, Flinders University, SA 5042, Adelaide, Australia.
Sandra E StaffieriCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, VIC 3002, East Melbourne, Australia.ORCID http://orcid.org/0000-0003-3131-9359
Jost B JonasDepartment of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University of Heidelberg, 68167, Mannheim, Germany.ORCID http://orcid.org/0000-0003-2972-5227
Irene SchmidtmannInstitute for Medical Biostatistics, Epidemiology and Informatics, University Medical Center Mainz, 55131, Mainz, Germany.
Thibaud BoutinInstitute of Genetics and Molecular Medicine, Medical Research Council Human Genetics Unit, University of Edinburgh, EH42XU, Edinburgh, UK.
Jae H KangChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA 02115, MA, USA.ORCID http://orcid.org/0000-0003-4812-0557
Sionne E M LucasMenzies Institute for Medical Research, University of Tasmania, Hobart, TAS 7005, TAS, Australia.
Tien Yin WongSingapore Eye Research Institute, Singapore National Eye Centre, 168751, Singapore, Singapore.
Manfred E BeutelDepartment of Psychosomatic Medicine and Psychotherapy, University Medical Center Mainz, Mainz, 55131, Germany.
James F WilsonInstitute of Genetics and Molecular Medicine, Medical Research Council Human Genetics Unit, University of Edinburgh, EH42XU, Edinburgh, UK.ORCID http://orcid.org/0000-0001-5751-9178
NEIGHBORHOOD Consortium
Wellcome Trust Case Control Consortium 2 (WTCCC2)
André G UitterlindenDepartment of Epidemiology, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.
Eranga N VithanaSingapore Eye Research Institute, Singapore National Eye Centre, 168751, Singapore, Singapore.
Paul J FosterNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, EC1V 9EL, London, UK.ORCID http://orcid.org/0000-0002-4755-177X
Pirro G HysiDepartment of Twin Research and Genetic Epidemiology, King's College London, WC2R 2LS, London, UK.ORCID http://orcid.org/0000-0001-5752-2510
Alex W HewittCentre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, VIC 3002, East Melbourne, Australia.ORCID http://orcid.org/0000-0002-5123-5999
Chiea Chuen KhorGenome Institute of Singapore, 60 Biopolis Street, Singapore, 138672, Singapore.ORCID http://orcid.org/0000-0002-1128-4729
Louis R PasqualeChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA 02115, MA, USA.ORCID http://orcid.org/0000-0002-5835-3496
Grant W MontgomeryDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, QLD 4029, Brisbane, Australia.ORCID http://orcid.org/0000-0002-4140-8139
Caroline C W KlaverDepartment of Ophthalmology, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0002-2355-5258
Tin AungSingapore Eye Research Institute, Singapore National Eye Centre, 168751, Singapore, Singapore.
Norbert PfeifferDepartment of Ophthalmology, University Medical Center Mainz, 55131, Mainz, Germany.
David A MackeyCentre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, WA 6009, Perth, WA, Australia.
Christopher J HammondDepartment of Twin Research and Genetic Epidemiology, King's College London, WC2R 2LS, London, UK.ORCID http://orcid.org/0000-0002-3227-2620
Ching-Yu ChengSingapore Eye Research Institute, Singapore National Eye Centre, 168751, Singapore, Singapore.
Jamie E CraigDepartment of Ophthalmology, Flinders University, SA 5042, Adelaide, Australia.
Yaron S RabinowitzRegenerative Medicine Institute and Department of Surgery, Cedars-Sinai Medical Center, CA 90048, Los Angeles, CA, USA.
Janey L WiggsDepartment of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, MA 02114, MA, USA.ORCID http://orcid.org/0000-0003-1890-3278
Kathryn P BurdonMenzies Institute for Medical Research, University of Tasmania, Hobart, TAS 7005, TAS, Australia.ORCID http://orcid.org/0000-0001-8217-1249
Cornelia M van DuijnDepartment of Epidemiology, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.
Stuart MacGregorStatistical Genetics, QIMR Berghofer Medical Research Institute, QLD 4029, Brisbane, Australia. Stuart.MacGregor@qimrberghofer.edu.au.ORCID http://orcid.org/0000-0001-6731-8142
Wellcome Sanger Institute · GBCentre for Human Genetics · GBThe University of Melbourne · AUMoorfields Eye Hospital NHS Foundation Trust · GBNational University of Singapore · SGUniversity of Miami · USGuy's Hospital · GBJohannes Gutenberg University Mainz · DEMassachusetts Eye and Ear Infirmary · USQIMR Berghofer Medical Research Institute · AUSingapore National Eye Center · SGThe University of Sydney · AUUniversity of Tasmania · AUBrigham and Women's Hospital · USErasmus MC · NLJohns Hopkins University · USLions Eye Institute · AUThe Lundquist Institute · USUniversity of Michigan · USCase Western Reserve University · US
Funding
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MP30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Janey L Wiggs · 2002 to 2026
$15.1MGENETIC FACTORS IN KERATOCONUSR01EY009052 · NEI · CEDARS-SINAI MEDICAL CENTER · PI RABINOWITZ, YARON SOLOMON, ROTTER, JEROME I · 1993 to 2019
$10.9MThe 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
$3.4MData commons for 'omic, microscopy and analysis core facilitiesS10OD018164 · OD · DUKE UNIVERSITY · PI WRAY, GREGORY A. · 2014 to 2014
$598kLong Noncoding RNA lncLOXL1 and Exfoliation Syndrome.R21EY028671 · NEI · AUGUSTA UNIVERSITY · PI LIU, YUTAO · 2018 to 2019
$467kBritish Heart Foundation RG/13/13/30194Medical Research Council G19/2Medical Research Council MC_PC_U127561128Medical Research Council MC_UU_00007/10Medical Research Council MR/L003120/1NCATS NIH HHS UL1 TR001881NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY009052NEI NIH HHS R01 EY022305NEI NIH HHS R01 EY023242NIH HHS S10 OD018164
Abstract
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r = -0.62, P = 5.30 × 10
Indexed as
Genome, HumanPolymorphism, Single NucleotideQuantitative Trait, HeritableADAMTS ProteinsAdipokinesAsian PeopleCorneaCorneal DiseasesCorneal Dystrophies, HereditaryDecorinEhlers-Danlos SyndromeEye Diseases, HereditaryFibrillin-1Gene ExpressionGenome-Wide Association StudyGlaucoma, Open-AngleADAMTS2 protein, humanADAMTS ProteinsAdipokinesDCN protein, humanDecorinFBN1 protein, humanFibrillin-1KERA protein, humanLumicanLUM protein, humanProteoglycansTGFB2 protein, humanTransforming Growth Factor beta2
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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.