Evidence map›Paper›PMID 42303830›Full record

SynthesisBritish journal of cancer2026

GWAS meta-analysis provides new insights into uveal melanoma risk.

Matthew D'Mellow, Huanwei Wang, Jane M Palmer, Kari Hemminki, Colleen M Cebulla, Aaron B Beasley, Nikolaos E Bechrakis, Antonia L Pritchard, Karin W Wadt, Peter A Johansson and 32 more

Abstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in British journal of cancer, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

42 authors.

Matthew D'MellowCancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. matthew.dmellow@qimrb.edu.au.ORCID http://orcid.org/0000-0001-8979-2419
Huanwei WangPopulation Health Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Jane M PalmerCancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0002-2702-522X
Kari HemminkiCharles University Medical School, Pilsen, Czechia.
Colleen M CebullaDepartment of Ophthalmology and Visual Sciences, Havener Eye Institute, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Aaron B BeasleyCentre for Precision Health, Edith Cowan University, Joondalup, WA, Australia.ORCID http://orcid.org/0000-0001-5727-7463
Nikolaos E BechrakisInstitute of Human Genetics, Universitätsklinikum Essen, Essen, Germany.
Antonia L PritchardCancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Karin W WadtRigshospitalet, Copenhagen, Denmark.
Peter A JohanssonCancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0001-7015-5452
Lenha MobuchonPSL University, Institut Curie, Paris, France.
Samantha BarlowDepartment of Eye and Vision Science, University of Liverpool, Liverpool, UK.
Kelly BrooksCancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Timothy BeckmanTerrace Eye Centre, Brisbane, QLD, Australia.
Catherine M OlsenPopulation Health Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Sunil K WarrierTerrace Eye Centre, Brisbane, QLD, Australia.
Lindsey ByrneDivision of Human Genetics, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Helen KaliraiDepartment of Eye and Vision Science, University of Liverpool, Liverpool, UK.
Colette MustardBiomedical Sciences, University of the Highlands and Islands, Inverness, UK.
Nathan IngoldCancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Asta FörstiGerman Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID http://orcid.org/0000-0002-9857-4728
Timothy IsaacsPerth Retina, Perth, WA, Australia.
G J M Shanika R JayasinghePopulation Health Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
William J GlassonTerrace Eye Centre, Brisbane, QLD, Australia.
Gayle WilliamsonTennent Institute of Ophthalmology, Gartnavel General Hospital, Glasgow, UK.
Lindsay A McGrathTerrace Eye Centre, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0003-0925-1124
Ngoc-Quynh LePopulation Health Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Vikas ChadhaTennent Institute of Ophthalmology, Gartnavel General Hospital, Glasgow, UK.
Elin S GrayCentre for Precision Health, Edith Cowan University, Joondalup, WA, Australia.ORCID http://orcid.org/0000-0002-8613-3570
Kevin M BrownNational Cancer Institute, National Institutes of Health, Bethesda, ML, USA.ORCID http://orcid.org/0000-0002-8558-6711
Paul CauchiTennent Institute of Ophthalmology, Gartnavel General Hospital, Glasgow, UK.
Hauke ThomsenMSB Medical School Berlin, Berlin, Germany.
Julie ConnollyTennent Institute of Ophthalmology, Gartnavel General Hospital, Glasgow, UK.
Stuart MacGregorPopulation Health Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
David C WhitemanPopulation Health Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Jens F KiilgaardRigshospitalet, Copenhagen, Denmark.
Marc-Henri SternPSL University, Institut Curie, Paris, France.ORCID http://orcid.org/0000-0002-8100-2272
Sarah E CouplandDepartment of Eye and Vision Science, University of Liverpool, Liverpool, UK.ORCID http://orcid.org/0000-0002-1464-2069
Mohamed H Abdel-RahmanDepartment of Ophthalmology and Visual Sciences, Havener Eye Institute, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Michael ZeschnigkInstitute of Human Genetics, Universitätsklinikum Essen, Essen, Germany.
Nick HaywardCancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Matthew H LawPopulation Health Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0002-4303-8821

Funding

Translational Therapeutics Research Program (TT)P30CA016058 · NCI · OHIO STATE UNIVERSITY · PI Tasleem J Padamsee · 1985 to 2026
$132.3M
The Ohio State University Vision Sciences Research Core Program (OSU-VSRCP)P30EY032857 · NEI · OHIO STATE UNIVERSITY · PI Xiaoyi Raymond Gao · 2022 to 2026
$3.6M
Spectrum of clinical phenotype of the BAP1-tumor predisposition syndrome (BAP1-TPDS)R01CA255323 · NCI · OHIO STATE UNIVERSITY · PI ABDEL-RAHMAN, MOHAMED H. · 2021 to 2025
$2.9M
Cancéropôle Île-de-France (Cancéropôle IDF) N/ADepartment of Health | National Health and Medical Research Council (NHMRC) 1093017Department of Health | National Health and Medical Research Council (NHMRC) 1093017; 1195581Department of Health | National Health and Medical Research Council (NHMRC) 1185416; 1063061; 552429Department of Health | National Health and Medical Research Council (NHMRC) 1185416; 1063061; 552429; 2026567Department of Health | National Health and Medical Research Council (NHMRC) 2030931; 2034568EC | Horizon 2020 Framework Programme (EU Framework Programme for Research and Innovation H2020) 667787Institut Curie N/AInstitut National de la Santé et de la Recherche Médicale (National Institute of Health and Medical Research) N/AInstitut National Du Cancer (French National Cancer Institute) 2017-1-PL SHS-02NCI NIH HHS P30 CA016058NCI NIH HHS R01 CA255323NEI NIH HHS P30 EY032857NHS Greater Glasgow and Clyde 1753APOhio State University (OSU) P30EY032857U.S. Department of Defense (United States Department of Defense) W81XWH2110675U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI) 2P30CA016058-40; R01CA255323
6 · The paper itself

Abstract

objectiveThe aim of this research is to identify germline genetic variants that predispose to uveal melanoma (UM) using data from nine studies involving 5839 individuals with UM (3853 novel) and 349,863 healthy controls.

methodsFive novel UM genome-wide association studies (GWAS) were performed and included for meta-analysis with four previously published UM GWAS. A fixed-effects inverse-variance weighted (IVW) meta-analysis was performed by combining data from these nine UM case-control cohorts. A follow-up transcriptome-wide association study (TWAS) was conducted to identify candidate target genes at UM risk loci. Genetic correlations with melanoma-related phenotypes were measured to elucidate UM's genetic architecture.

resultsWe identify nine linkage disequilibrium (LD)-independent loci (three novel) with an IVW P value of less than 5 × 10

conclusionsThis meta-analysis offers new insights into the genetic architecture of UM, highlights potential therapeutic targets, and explores the genetic relationship with CM and skin pigmentation.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyMelanomaUveal NeoplasmsCase-Control StudiesHumansLinkage DisequilibriumPolymorphism, Single NucleotideRisk FactorsUveal Melanoma

Identifiers

PMID42303830
PMCPMC13534482

What OpenQuestion holds

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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.