Evidence map›Paper›PMID 38267912›Full record

ArticleBMC ophthalmology2024

Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study.

Wolf Wonneberger, Bertil Sterner, Ulrika MacLean, Margareta Claesson, Lena Havstam Johansson, Ingmar Skoog, Madeleine Zetterberg, Anna Zettergren

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC ophthalmology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.6field-weighted citation impact, top 18% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Gender-specific association ofFrontiers in genetics · 2024
    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 at 2 institutions in 1 country.

Wolf WonnebergerRegion of Västra Götaland, Department of Ophthalmology, Sahlgrenska University Hospital, SE-431 80, Mölndal, Sweden. wolf.wonneberger@vgregion.se.
Bertil SternerRegion of Västra Götaland, Department of Ophthalmology, Sahlgrenska University Hospital, SE-431 80, Mölndal, Sweden.
Ulrika MacLeanGothenburg Vision Rehabilitation Center, Gothenburg, Sweden.
Margareta ClaessonRegion of Västra Götaland, Department of Ophthalmology, Sahlgrenska University Hospital, SE-431 80, Mölndal, Sweden.
Lena Havstam JohanssonRegion of Västra Götaland, Department of Ophthalmology, Sahlgrenska University Hospital, SE-431 80, Mölndal, Sweden.
Ingmar SkoogNeuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap), University of Gothenburg, Mölndal, Sweden.
Madeleine ZetterbergRegion of Västra Götaland, Department of Ophthalmology, Sahlgrenska University Hospital, SE-431 80, Mölndal, Sweden.
Anna ZettergrenNeuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap), University of Gothenburg, Mölndal, Sweden.
University of Gothenburg · SESahlgrenska University Hospital · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundKeratoconus (KC) is characterized by pathological thinning and bulging of the cornea that may lead to visual impairment. The etiology of sporadic KC remains enigmatic despite intensive research in recent decades. The purpose of this study was to examine the relationship between previously highlighted genetic variants associated with KC and sporadic KC in a Swedish cohort.

methodsA total of 176 patients (age 16-70 years) with sporadic KC diagnosed by Scheimpflug-topography (Pentacam) were included. The control group (n = 418; age 70 years) was a subsample originating from the Gothenburg H70 Birth Cohort Studies of ageing. Extraction of DNA from blood samples was performed according to standard procedures, and genotyping was performed using competitive allele specific PCR (KASP) technology. A total of 11 single nucleotide polymorphisms (SNPs) were selected for analysis.

resultsStatistically significant associations (p = 0.005) were found between the SNPs rs2721051 and rs9938149 and sporadic KC. These results replicate earlier research that found associations between genetic variants in the FOXO1 and BANP-ZNF469 genes and sporadic KC in other populations.

conclusionGenetic variations in the FOXO1 and BANP-ZNF469 genes may be involved in the pathogenesis of sporadic KC.

Indexed as

KeratoconusAdolescentAdultAgedAllelesCase-Control StudiesCorneaForkhead Box Protein O1HumansMiddle AgedSwedenTranscription FactorsYoung AdultForkhead Box Protein O1FOXO1 protein, humanTranscription FactorsZNF469 protein, humanFOXO1 geneSingle-nucleotide polymorphismSporadic keratoconusZNF469 gene

Identifiers

PMID38267912
PMCPMC10809587
OpenAlexW4391175375

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.