Evidence map›Paper›PMID 40585125›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Genome-Wide Insights into the Genes and Pathways Shaping Human Foveal Development.

Callum Hunt, Ha-Jun Yoon, Alvin Lirio, Kayesha Coley, Jun Wang, Nick Shrine, Jianming Shao, Gail DE Maconachie, Zhanhan Tu, Jonathan H Zippin and 7 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

5 · Who and what money

Authors and funding

17 authors.

Callum HuntThe University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Ha-Jun YoonThe University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.ORCID 0000-0003-0334-213X
Alvin LirioThe University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Kayesha ColeyDepartment of Population Health Sciences, University of Leicester, Leicester, UK.ORCID 0000-0003-4951-6799
Jun WangDepartment of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas, 77030, U.S.A.
Nick ShrineDepartment of Population Health Sciences, University of Leicester, Leicester, UK.ORCID 0000-0003-3641-4371
Jianming ShaoDepartment of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas, 77030, U.S.A.
Gail DE MaconachieThe University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.ORCID 0000-0001-9131-3480
Zhanhan TuThe University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Jonathan H ZippinDepartment of Dermatology, Weill Cornell Medical College of Cornell University, New York, NY.ORCID 0000-0002-5882-0189
Pirro G HysiSection of Ophthalmology, King's College London.ORCID 0000-0001-5752-2510
Christopher J HammondSection of Ophthalmology, King's College London.ORCID 0000-0002-3227-2620
Ala MoshiriDepartment of Ophthalmology & Vision Science, University of California Davis School of Medicine, Sacramento, CA, USA, 95616.ORCID 0000-0002-4277-8094
Rui ChenGavin Herbert Eye Institute - Center for Translational Vision Research, Department of Ophthalmology, University of California Irvine, Irvine, USA.ORCID 0000-0002-4387-9735
Martin D TobinDepartment of Population Health Sciences, University of Leicester, Leicester, UK.ORCID 0000-0002-3596-7874
Chiara BatiniDepartment of Population Health Sciences, University of Leicester, Leicester, UK.ORCID 0000-0002-7140-2985
Mervyn G ThomasThe University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.ORCID 0000-0002-4630-1234

Funding

GENETICS OF EARLY ONSET RETINAL DISEASESR01EY018571 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2008 to 2026
$7.2M
Molecular Basis of Human Visual System DisordersR01EY022356 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2012 to 2026
$6.1M
NEI UCI Center Core Grant for Vision ResearchP30EY034070 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Vladimir Jivkov Kefalov · 2022 to 2026
$3.7M
NEI NIH HHS P30 EY034070NEI NIH HHS R01 EY018571NEI NIH HHS R01 EY022356Wellcome Trust
6 · The paper itself

Abstract

Here we report the first genome-wide association study of foveal pit depth. In a cohort of 61,269 individuals, we identified 123 genome-wide significant loci associated with pit depth, including 47 novel associations not previously linked to macular traits. Using 12 complementary variant-to-gene mapping strategies, we prioritised 128 putative causal genes, 64 of which have not previously been implicated in foveal development. Our findings reveal previously unrecognised biological influences on foveal morphogenesis, including retinoic acid metabolism (implicating

Identifiers

PMID40585125
PMCPMC12204292

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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.