Evidence map›Paper›PMID 42245065›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Genome-wide discovery reveals 30 loci for choroidal thickness and uncovers potential causal links with angle-closure glaucoma.

Samantha Sze-Yee Lee, Carol A Wang, Victor A de Vries, Dirk J van Hemert, Alicia Schulze, Caroline Brandl, Asma M Aman, David Alonso-Caneiro, Hélène Choquet, Mathias Gorski and 24 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

34 authors.

Samantha Sze-Yee LeeThe University of Western Australia, Centre for Ophthalmology and Visual Science (incorporating the Lions Eye Institute), Perth, WA, Australia.ORCID 0000-0001-6635-1098
Carol A WangSchool of Medicine and Public Health, The University of Newcastle, Newcastle, NSW, Australia.ORCID 0000-0002-4301-3974
Victor A de VriesDepartment of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0002-2425-3841
Dirk J van HemertDepartment of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0009-0006-8744-684X
Alicia SchulzeInstitute of Medical Biostatistics, Epidemiology and Informatics, University Medical Center of the Johannes Gutenberg-University of Mainz, Mainz, Germany.ORCID 0000-0003-2527-0763
Caroline BrandlDepartment of Ophthalmology, University Hospital Regensburg, Regensburg, Germany.ORCID 0000-0001-8223-6137
Asma M AmanQIMR Berghofer, Brisbane, QLD, Australia.ORCID 0000-0002-6747-9947
David Alonso-CaneiroSchool of Science, Technology and Engineering, University of Sunshine Coast, Petrie, QLD, Australia.ORCID 0000-0002-7754-6592
Hélène ChoquetKaiser Permanente, Division of Research, Pleasanton, CA, USA.ORCID 0000-0001-9839-8667
Mathias GorskiDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.ORCID 0000-0002-9103-5860
Christopher J HammondDepartments of Ophthalmology and Twin Research & Ageing, Genomic Epidemiology, King's College London, London, United Kingdom.ORCID 0000-0002-3227-2620
Iris M HeidDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.ORCID 0000-0002-4122-5308
Michael L HunterSchool of Population and Global Health, Faculty of Health and Medical Sciences, University of Western Australia.ORCID 0000-0001-6704-4815
Pirro HysiDepartments of Ophthalmology and Twin Research & Ageing, Genomic Epidemiology, King's College London, London, United Kingdom.ORCID 0000-0001-5752-2510
Chen JiangKaiser Permanente, Division of Research, Pleasanton, CA, USA.ORCID 0000-0002-0336-4518
Jost JonasRothschild Foundation Hospital, Paris, France.ORCID 0000-0003-2972-5227
Caroline Cw KlaverDepartment of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0002-2355-5258
Sander Cm KneepkensDepartment of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0003-2689-5896
Simon KonigDepartment of Ophthalmology, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.ORCID 0009-0007-6136-4990
Gareth LinghamThe University of Western Australia, Centre for Ophthalmology and Visual Science (incorporating the Lions Eye Institute), Perth, WA, Australia.ORCID 0000-0002-8957-0733
Christian LuberDepartment of Ophthalmology, University Hospital Regensburg, Regensburg, Germany.ORCID 0000-0002-6128-4276
Philip E MeltonSchool of Population and Global Health, Faculty of Health and Medical Sciences, University of Western Australia.ORCID 0000-0003-4026-2964
Craig E PennellSchool of Medicine and Public Health, The University of Newcastle, Newcastle, NSW, Australia.ORCID 0000-0002-0937-6165
Wishal D RamdasDepartment of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0002-1780-5281
Scott A ReadCentre for Vision and Eye Research, Optometry and Vision Science, Queensland University of Technology, Brisbane, QLD, Australia.ORCID 0000-0002-1595-673X
Alexander K SchusterDepartment of Ophthalmology, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.ORCID 0000-0002-6304-3599
Ya Xing WangBeijing Visual Science and Translational Eye Research Institute (BERI), Beijing Tsinghua Changgung Hospital, Tsinghua Medicine, Tsinghua University, Beijing, China.ORCID 0000-0003-2749-7793
Martina E ZimmermannDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.ORCID 0000-0002-6916-4404
International Glaucoma Genetics Consortium
Anthony P KhawajaNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, UK.ORCID 0000-0001-6802-8585
Puya GharahkhaniQIMR Berghofer, Brisbane, QLD, Australia.ORCID 0000-0002-4203-5952
Stuart MacGregorQIMR Berghofer, Brisbane, QLD, Australia.ORCID 0000-0001-6731-8142
Jeremy A GuggenheimSchool of Optometry & Vision Sciences, Cardiff University, Cardiff, United Kingdom.ORCID 0000-0001-5164-340X
David A MackeyThe University of Western Australia, Centre for Ophthalmology and Visual Science (incorporating the Lions Eye Institute), Perth, WA, Australia.ORCID 0000-0001-7914-4709

Funding

A Resource for Genetic Epidemiology Research in Adult Health and AgingRC2AG036607 · NIA · KAISER FOUNDATION RESEARCH INSTITUTE · PI RISCH, NEIL J., SCHAEFER, CATHERINE ANN · 2009 to 2010
$24.8M
The Role of Refractive Error in the Etiology of GlaucomaR01EY027004 · NEI · KAISER FOUNDATION RESEARCH INSTITUTE · PI CHOQUET, HELENE · 2017 to 2020
$1.6M
The Role of Genetic and Non-Genetic Factors and Causal Mechanisms Underlying Cataract Susceptibility For Risk PredictionR01EY033010 · NEI · KAISER FOUNDATION RESEARCH INSTITUTE · PI CHOQUET, HELENE, LACHKE, SALIL · 2022 to 2025
$1.6M
NEI NIH HHS R01 EY027004NEI NIH HHS R01 EY033010NIA NIH HHS RC2 AG036607
6 · The paper itself

Abstract

The choroid is critical for maintaining vision and implicated in several ocular diseases, being the sole source of nutrients and waste removal for the outer retina. Genetic discovery can help elucidate the pathways through which choroidal features influence disease risk. Our meta-analysis of genome-wide association studies (n= 78,682 participants) identified 30 genomic regions, including 20 novel loci, associated with choroidal thickness. Findings suggest inflammatory and vascular processes drive choroidal thickness, with overlapping mechanisms shared with refractive error. Genome-wide independently significant SNPs accounted for 18.7% of the genetic variance in choroidal thickness. Mendelian randomisation analyses showed a causal effect of age-related macular degeneration on choroidal thickness, and suggest a bidirectional causal effect between choroidal thickness and primary angle-closure glaucoma. These findings provide insight into the shared genetic architecture and biological pathways linking choroidal thickness and related diseases.

Indexed as

Canadian Longitudinal Study on Agingchoroidgenome-wide association studiesmacular degenerationMendelian randomisationprimary angle-closure glaucomarefractive error

Identifiers

PMID42245065
PMCPMC13232363

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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.