Evidence map›Paper›PMID 40353861›Full record

ArticleHuman genetics2025

Genome-wide association study of Fuchs' endothelial corneal dystrophy in the German population.

Juliane Fechner, Guilherme B Neumann, Fabia Murza, Leonard Matthias, Marcus Walckling, Claudia Brockmann, Thomas A Fuchsluger, Tobias Brockmann

Abstract read
In one paragraph

Article in Human genetics, 2025. 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

8 authors.

Juliane FechnerDepartment of Ophthalmology, Universitätsmedizin Rostock, Doberaner Straße 140, 18057, Rostock, Germany.
Guilherme B NeumannAlbrecht Daniel Thaer-Institute for Agricultural and Horticultural Sciences, Humboldt-Universität zu Berlin, Invalidenstraße 42, 10115, Berlin, Germany.
Fabia MurzaDepartment of Ophthalmology, Universitätsmedizin Rostock, Doberaner Straße 140, 18057, Rostock, Germany.
Leonard MatthiasDepartment of Ophthalmology, Universitätsmedizin Rostock, Doberaner Straße 140, 18057, Rostock, Germany.
Marcus WalcklingDepartment of Ophthalmology, Universitätsmedizin Rostock, Doberaner Straße 140, 18057, Rostock, Germany.
Claudia BrockmannDepartment of Ophthalmology, Universitätsmedizin Rostock, Doberaner Straße 140, 18057, Rostock, Germany.
Thomas A FuchslugerDepartment of Ophthalmology, Universitätsmedizin Rostock, Doberaner Straße 140, 18057, Rostock, Germany.
Tobias BrockmannDepartment of Ophthalmology, Universitätsmedizin Rostock, Doberaner Straße 140, 18057, Rostock, Germany. tobias.brockmann@med.uni-rostock.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The genetic etiology of Fuchs Endothelial Corneal Dystrophy (FECD) is not yet fully elucidated. While the disease is widespread and the leading indication for corneal transplantation in the Western world, the concurrent shortage of corneal transplants underscores the urgent need for further research into the underlying mechanisms. Such investigations could enable the development of innovative therapeutic strategies. Therefore, we aimed to verify candidate genes previously identified and sought after novel variants in the German population. Undertaking a genome wide association study (GWAS) using the Axiom™ Precision Medicine Diversity Array on 157 FECD cases and 309 controls, followed by pathway enrichment analysis, we were able to confirm the significance of the TCF4 locus (rs613872, p = 8.0 × 10

Indexed as

Fuchs' Endothelial DystrophyGenome-Wide Association StudyAgedCase-Control StudiesFemaleGenetic Predisposition to DiseaseGermanyHumansMaleMiddle AgedPolymorphism, Single NucleotideTranscription Factor 4TCF4 protein, humanTranscription Factor 4Fuchs Endothelial Corneal Dystrophy (FECD)GeneticsGenome-Wide Association Study (GWAS)Long non-coding RNA (lncRNA)TCF4

Identifiers

PMID40353861
PMCPMC12170761

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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.