Evidence map›Paper›PMID 40666342›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Genetic insights into foveal morphology and its associations with pigmentation and age-related macular degeneration.

David J Green, David Romero-Bascones, Thomas H Julian, Sofia Torchia, Heer N V Joisher, UK Biobank Eye and Vision Consortium, Unai Ayala, Maitane Barrenechea, Jay E Self, Graeme C Black and 5 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. 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

15 authors.

David J GreenDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
David Romero-BasconesBiomedical Engineering Department, Faculty of Engineering (MU-ENG), Mondragon Unibertsitatea, Mondragón, Spain.
Thomas H JulianDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Sofia TorchiaEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Cambridge, UK.
Heer N V JoisherDepartment of Genetics, Blavatnik Institute, Boston, MA, USA.
UK Biobank Eye and Vision Consortium
Unai AyalaBiomedical Engineering Department, Faculty of Engineering (MU-ENG), Mondragon Unibertsitatea, Mondragón, Spain.
Maitane BarrenecheaBiomedical Engineering Department, Faculty of Engineering (MU-ENG), Mondragon Unibertsitatea, Mondragón, Spain.
Jay E SelfClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Graeme C BlackDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Tomas FitzgeraldEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Cambridge, UK.
Ewan BirneyEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Cambridge, UK.
Constance L CepkoDepartment of Genetics, Blavatnik Institute, Boston, MA, USA.
Joseph CarrollCell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA.
Panagiotis I SergouniotisDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Funding

Assessing Photoreceptor Structure and Function in Normal and Diseased RetinaeR01EY017607 · NEI · MEDICAL COLLEGE OF WISCONSIN · PI Joseph Carroll · 2008 to 2026
$8.3M
Retinal Contributions to Vision Loss in AlbinismR01EY033580 · NEI · MEDICAL COLLEGE OF WISCONSIN · PI CARROLL, JOSEPH · 2022 to 2025
$2.2M
NEI NIH HHS R01 EY017607NEI NIH HHS R01 EY033580Wellcome Trust
6 · The paper itself

Abstract

The fovea is the small depression at the neurosensory retina that underlies high-resolution central vision. It is vulnerable to disease and disruption of its architecture causes visual disability. Foveal morphology varies significantly across individuals. The molecular causes and functional consequences of this anatomical diversity are incompletely understood. Here, we extracted six foveal morphological parameters from Optical Coherence Tomography (OCT) images of 55,604 UK Biobank participants. We found notable variability in foveal morphology, and detected significant links with sex and genetic ancestry. Genome-wide association studies identified 197 lead loci across the six foveal morphological parameters, implicating genes involved in pigmentation (e.g.,

Identifiers

PMID40666342
PMCPMC12262746

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.