Evidence map›Paper›PMID 36737489›Full record

ArticleScientific reports2023

Post-GWAS screening of candidate genes for refractive error in mutant zebrafish models.

Wim H Quint, Kirke C D Tadema, Nina C C J Kokke, Magda A Meester-Smoor, Adam C Miller, Rob Willemsen, Caroline C W Klaver, Adriana I Iglesias

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 26% of its field
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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Animal modeling for myopia.Advances in ophthalmology practice and research
    Review
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 at 3 institutions in 3 countries.

Wim H QuintDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
Kirke C D Tadema *Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
Nina C C J Kokke *Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
Magda A Meester-SmoorDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
Adam C MillerInstitute of Neuroscience, University of Oregon, Eugene, USA.
Rob WillemsenDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Caroline C W KlaverDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
Adriana I IglesiasDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands. a.iglesiasgonzalez@erasmusmc.nl.
Erasmus MC · NLRadboud University Nijmegen · NLUniversity of Oregon · US

Funding

Molecular Mechanisms of Electrical Synapse Formation in VivoR01NS105758 · NINDS · UNIVERSITY OF OREGON · PI Adam C Miller · 2019 to 2026
$3.7M
Transgenic tools for revealing the contributions of electrical synapses to neural circuitsRF1MH120016 · NIMH · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI MILLER, ADAM C, O'BRIEN, JOHN · 2020 to 2020
$3.1M
NIMH NIH HHS RF1 MH120016NINDS NIH HHS R01 NS105758
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have dissected numerous genetic factors underlying refractive errors (RE) such as myopia. Despite significant insights into understanding the genetic architecture of RE, few studies have validated and explored the functional role of candidate genes within these loci. To functionally follow-up on GWAS and characterize the potential role of candidate genes on the development of RE, we prioritized nine genes (TJP2, PDE11A, SHISA6, LAMA2, LRRC4C, KCNQ5, GNB3, RBFOX1, and GRIA4) based on biological and statistical evidence; and used CRISPR/cas9 to generate knock-out zebrafish mutants. These mutant fish were screened for abnormalities in axial length by spectral-domain optical coherence tomography and refractive status by eccentric photorefraction at the juvenile (2 months) and adult (4 months) developmental stage. We found a significantly increased axial length and myopic shift in refractive status in three of our studied mutants, indicating a potential involvement of the human orthologs (LAMA2, LRRC4C, and KCNQ5) in myopia development. Further, in-situ hybridization studies showed that all three genes are expressed throughout the zebrafish retina. Our zebrafish models provide evidence of a functional role of these three genes in refractive error development and offer opportunities to elucidate pathways driving the retina-to-sclera signaling cascade that leads to myopia.

Indexed as

MyopiaRefractive ErrorsAnimalsGenome-Wide Association StudyHumansRetinaZebrafish

Identifiers

PMID36737489
PMCPMC9898536
OpenAlexW4319074593

What Socratic holds

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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 Socratic graph.