Evidence map›Paper›PMID 28032277›Full record

ReviewMolecular genetics and genomics : MGG2017

Genomic strategies to understand causes of keratoconus.

Justyna A Karolak, Marzena Gajecka

Registry-linked trialAbstract readReview
In one paragraph

Review in Molecular genetics and genomics : MGG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03071302 (Evaluation of Tomographic and Genetic Aspects of Keratoconus Patients Compared to Sounds Corneas), which is not on this map. Cited by 32 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 1 pooled it
–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.

NCT03071302 nacompletednot on this map

Evaluation of Tomographic and Genetic Aspects of Keratoconus Patients Compared to Sounds Corneas

TypeinterventionalSponsorSao Jose do Rio Preto Medical SchoolRan2015 to 2016Enrolled210ConditionsKeratoconus, Keratoconus, Unspecified, BilateralArmsEVALUATION OF VSX1, SOD1, and TIMP3 genes
3 · Its place in the literature

Who cites it

32 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Trial
  3. Article
  4. Article
  5. Review
  6. Article
  7. Role of epigenetics in corneal health and disease.Progress in retinal and eye research · 2025
    Review
  8. Keratoconus.Nature reviews. Disease primers · 2024
    Article
  9. Review
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. 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

2 authors.

Justyna A KarolakDepartment of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Swiecickiego 4, Poznan, 60-781, Poland.
Marzena GajeckaDepartment of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Swiecickiego 4, Poznan, 60-781, Poland. gamar@man.poznan.pl.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Keratoconus (KTCN) is a degenerative disorder of the eye characterized by the conical shape and thinning of the cornea. The abnormal structure of KTCN-affected cornea results in loss of visual acuity. While many studies examine how environmental factors influence disease development, finding the genetic triggers has been a major emphasis of KTCN research. This paper focuses on genomic strategies that were implemented for finding candidate genes, including linkage and association studies, and presents different approaches of mutation screening. The advantages and limitations of particular tools are discussed based on literature and personal experience. Since etiology underlying KTCN is complex, numerous findings indicating heterogeneity of genetic factors involved KTCN etiology are presented.

Indexed as

GenomicsCorneaDNA Mutational AnalysisEyeEye ProteinsGenetic LinkageGenetic Predisposition to DiseaseGenome-Wide Association StudyHigh-Throughput Nucleotide SequencingHumansKeratoconusMutationEye ProteinsCandidate geneComplex diseaseHigh-throughput methodsKeratoconusNext-generation sequencing

Identifiers

PMID28032277
PMCPMC5357269

What OpenQuestion holds

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Registered trials

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.