ArticlePLoS genetics2021
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.
Erratum issuedOpen access · goldAbstract read
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Article in PLoS genetics, 2021. 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 72 papers, 3 of them syntheses that pooled it.
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72citing papers in PubMed, 3 pooled it
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72 citing papers in PubMed, 3 syntheses or guidelines pooled it, 120 citations in OpenAlex.
- Genome-wide association study and polygenic risk scores of retinal thickness across the cognitive continuum: data from the NORFACE cohort.Alzheimer's research & therapy · 2024Pooled it
- SARS-CoV-2 neurovascular invasion supported by Mendelian randomization.Journal of translational medicine · 2024Pooled it
- Background polygenic risk modulates the association between glaucoma and cardiopulmonary diseases and measures: an analysis from the UK Biobank.The British journal of ophthalmology · 2023Pooled it
- Effect of Prematurity on Foveal Development During Infancy: Increased Foveal Inner and Outer Retina Layer Thicknesses in Extremely Premature Infants.Investigative ophthalmology & visual science · 2026Observational
- Apolipoprotein E2/2 (APOE2/2) Genotype Is Associated With Reduced Choroidal Thickness.Investigative ophthalmology & visual science · 2026Article
- Evaluating causal links between retinal thickness, Alzheimer's disease, and circulating total-tau: evidence from Mendelian randomization and colocalization analysis.European archives of psychiatry and clinical neuroscience · 2026Article
- Spatial Decomposition of Longitudinal RNFL Maps Reveals Distinct Modes of Glaucomatous Progression With Structure-Function and Genetic Signatures.Investigative ophthalmology & visual science · 2026Article
- Genome-wide association and multi-omics functional screens reveal the genetic architecture of foveal development.medRxiv : the preprint server for health sciences · 2026Article
- Brain-heart-eye axis revealed by multi-organ imaging genetics and proteomics.Nature biomedical engineering · 2026Article
- Multi-omic analysis of deep learning-derived phenotypes links ophthalmic imaging to cardiovascular and neurological traits.Nature cardiovascular research · 2026Article
- Genome-wide discovery reveals 30 loci for choroidal thickness and uncovers potential causal links with angle-closure glaucoma.medRxiv : the preprint server for health sciences · 2026Article
- Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.Pigment cell & melanoma research · 2026Article
- Deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset.Scientific reports · 2026Article
- Uncovering the Genetic Architecture of Optic Nerve Integrity Estimates through Genome-wide Association Study Meta-analyses.medRxiv : the preprint server for health sciences · 2026Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.Research square · 2026Article
- Multi-omics Mendelian randomization analysis identifies SPATA20 as a cross-omic target in primary open angle glaucoma.International journal of ophthalmology · 2026Article
- Deep Learning Detection of Retinitis Pigmentosa Inheritance Forms through Synthetic Data Expansion of a Rare Disease Dataset.Research square · 2025Article
- The Association of Polygenic Risk Score With Glaucoma and Its Related Traits: Results From Two German Population-Based Studies.Investigative ophthalmology & visual science · 2025Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.medRxiv : the preprint server for health sciences · 2025Article
- Genomic structural equation Modeling analysis of glaucoma Endophenotypes: investigating genetic architecture and non-intraocular pressure mechanisms.Human molecular genetics · 2025Article
12 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
36 authors at 18 institutions in 7 countries.
Hannah CurrantEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.ORCID 0000-0003-2764-6787
Pirro HysiSchool of Life Course Sciences, Section of Ophthalmology, King's College London, London, United Kingdom.ORCID 0000-0001-5752-2510
Tomas W FitzgeraldEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.ORCID 0000-0002-2370-8496
Puya GharahkhaniStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.ORCID 0000-0002-4203-5952
Pieter W M BonnemaijerDepartment of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.ORCID 0000-0001-5154-6765
Anne SenabouthGarvan Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, The Kinghorn Cancer Centre, Darlinghurst, Australia.ORCID 0000-0002-8798-9821
Alex W HewittMenzies Institute for Medical Research, School of Medicine, University of Tasmania, Tasmania, Australia.ORCID 0000-0002-5123-5999
UK Biobank Eye and Vision Consortium
International Glaucoma Genetics Consortium
Denize AtanTranslational Health Sciences, Bristol Medical School, University of Bristol, Bristol, United Kingdom.ORCID 0000-0003-1217-4852
Tin AungSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Jason CharngCentre for Ophthalmology and Visual Science, Lions Eye Institute, The University of Western Australia, Perth, Australia.ORCID 0000-0002-5778-6310
Hélène ChoquetKaiser Permanente Northern California Division of Research, Oakland, California, United States of America.ORCID 0000-0001-9839-8667
Jamie CraigDepartment of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, Australia.
Peng T KhawNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, United Kingdom.
Caroline C W KlaverDepartment of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.ORCID 0000-0002-2355-5258
Michiaki KuboRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID 0000-0002-0095-2322
Jue-Sheng OngStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.ORCID 0000-0002-6062-710X
Louis R PasqualeEye and Vision Research Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
Charles A ReismanTopcon Healthcare Solutions R&D, Oakland, New Jersey, United States of America.ORCID 0000-0002-4179-8245
Maciej DaniszewskiDepartment of Anatomy and Physiology, The University of Melbourne, Parkville, Australia.ORCID 0000-0003-3468-4941
Joseph E PowellGarvan Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, The Kinghorn Cancer Centre, Darlinghurst, Australia.
Alice PébayDepartment of Anatomy and Physiology, The University of Melbourne, Parkville, Australia.
Mark J SimcoeDepartment of Ophthalmology, Kings College London, London, United Kingdom.ORCID 0000-0003-2432-0810
Alberta A H J ThiadensDepartment of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.ORCID 0000-0002-4911-9462
Cornelia M van DuijnNuffield Department Of Population Health, University of Oxford, Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Oxford, United Kingdom.ORCID 0000-0002-2374-9204
Seyhan YazarGarvan-Weizmann Centre for Single Cell Genomics, Garvan Institute of Medical Research, Sydney, Australia.ORCID 0000-0003-0994-6196
Eric JorgensonKaiser Permanente Northern California Division of Research, Oakland, California, United States of America.ORCID 0000-0002-5829-8191
Stuart MacGregorStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.ORCID 0000-0001-6731-8142
Chris J HammondSchool of Life Course Sciences, Section of Ophthalmology, King's College London, London, United Kingdom.ORCID 0000-0002-3227-2620
David A MackeyCentre for Ophthalmology and Visual Science, Lions Eye Institute, The University of Western Australia, Perth, Australia.ORCID 0000-0001-7914-4709
Janey L WiggsDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear, Boston, Massachusetts, United States of America.ORCID 0000-0003-1890-3278
Paul J FosterNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, United Kingdom.ORCID 0000-0002-4755-177X
Praveen J PatelNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, United Kingdom.ORCID 0000-0001-8682-4067
Ewan BirneyEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.ORCID 0000-0001-8314-8497
Anthony P KhawajaNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, United Kingdom.ORCID 0000-0001-6802-8585
Moorfields Eye Hospital NHS Foundation Trust · GBEuropean Bioinformatics Institute · GBGarvan Institute of Medical Research · AUKing's College London · GBQIMR Berghofer Medical Research Institute · AUErasmus MC · NLKaiser Permanente · USLions Eye Institute · AUThe University of Melbourne · AUFlinders University · AUIcahn School of Medicine at Mount Sinai · USMassachusetts Eye and Ear Infirmary · USNational University of Singapore · SGRadboud University Nijmegen · NLRIKEN Center for Integrative Medical Sciences · JPUniversity Hospitals Bristol NHS Foundation Trust · GBUniversity of Oxford · GBUniversity of Tasmania · AU
Funding
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Janey L Wiggs · 2002 to 2026
$15.1MGene-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
$7.9MGenetic Etiology of Abdominal Hernia SusceptibilityR01DK116738 · NIDDK · KAISER FOUNDATION RESEARCH INSTITUTE · PI AHITUV, NADAV, CHOQUET, HELENE · 2018 to 2020
$1.8MThe Role of Genetic Risk Factors in Keratinocyte Carcinoma SusceptibilityR01CA241623 · NCI · KAISER FOUNDATION RESEARCH INSTITUTE · PI ASGARI, MARYAM MANDANA, CHOQUET, HELENE · 2020 to 2025
$1.7MThe Role of Refractive Error in the Etiology of GlaucomaR01EY027004 · NEI · KAISER FOUNDATION RESEARCH INSTITUTE · PI CHOQUET, HELENE · 2017 to 2020
$1.6MMedical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MR/T040912/1NCI NIH HHS R01 CA241623NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY015473NEI NIH HHS R01 EY022305NEI NIH HHS R01 EY027004NIDDK NIH HHS R01 DK116738
Abstract
Optical Coherence Tomography (OCT) enables non-invasive imaging of the retina and is used to diagnose and manage ophthalmic diseases including glaucoma. We present the first large-scale genome-wide association study of inner retinal morphology using phenotypes derived from OCT images of 31,434 UK Biobank participants. We identify 46 loci associated with thickness of the retinal nerve fibre layer or ganglion cell inner plexiform layer. Only one of these loci has been associated with glaucoma, and despite its clear role as a biomarker for the disease, Mendelian randomisation does not support inner retinal thickness being on the same genetic causal pathway as glaucoma. We extracted overall retinal thickness at the fovea, representative of foveal hypoplasia, with which three of the 46 SNPs were associated. We additionally associate these three loci with visual acuity. In contrast to the Mendelian causes of severe foveal hypoplasia, our results suggest a spectrum of foveal hypoplasia, in part genetically determined, with consequences on visual function.
Indexed as
Biological Specimen BanksGenetic VariationPhenotypeTomography, Optical CoherenceFemaleGenotypeGlaucomaHair ColorHumansMaleMiddle AgedPolymorphism, Single NucleotideQuality ControlRetinaUnited KingdomVision Disorders
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