ArticleJournal of human genetics2008
VSX1 gene variants are associated with keratoconus in unrelated Korean patients.
Article in Journal of human genetics, 2008. 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 34 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Evaluation of Tomographic and Genetic Aspects of Keratoconus Patients Compared to Sounds Corneas
Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Genetic associations for keratoconus: a systematic review and meta-analysis.Scientific reports · 2017Pooled it
- Systemic and Ocular Associations of Keratoconus.Expert review of ophthalmology · 2024Article
- A Method for Real-Time Assessment of Mitochondrial Respiration Using Murine Corneal Biopsy.Investigative ophthalmology & visual science · 2023Article
- Clinical and genetic analysisFrontiers in genetics · 2023Article
- Do age-related macular degeneration genes show association with keratoconus?Eye and vision (London, England) · 2019Article
- The Association Between Interleukin 1 Beta Promoter Polymorphisms And Keratoconus Incidence And Severity In An Egyptian Population.Clinical ophthalmology (Auckland, N.Z.) · 2019Article
- Expression of visual system homeobox 1 in human keratoconus.International journal of ophthalmology · 2019Article
- Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.Ophthalmology and therapy · 2018Review
- Article
- Analysis of the VSX1 gene in sporadic keratoconus patients from China.BMC ophthalmology · 2017Article
- Genomic strategies to understand causes of keratoconus.Molecular genetics and genomics : MGG · 2017Review
- Genetics in Keratoconus - What is New?The open ophthalmology journal · 2017Article
- Case-control association between CCT-associated variants and keratoconus in a Saudi Arabian population.Journal of negative results in biomedicine · 2015Article
- Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India.BMC medical genetics · 2015Article
- The genetic and environmental factors for keratoconus.BioMed research international · 2015Review
- Nonrandom Distribution of miRNAs Genes and Single Nucleotide Variants in Keratoconus Loci.PloS one · 2015Article
- Screening of the Seed Region of MIR184 in Keratoconus Patients from Saudi Arabia.BioMed research international · 2015Article
- Genetics of keratoconus: where do we stand?Journal of ophthalmology · 2014Review
- Association of the hepatocyte growth factor gene with keratoconus in an Australian population.PloS one · 2014Article
- Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening.JAMA ophthalmology · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Keratoconus is a bilateral ectatic disorder characterized by the central thinning of corneal tissue leading to visual impairment. To investigate the possibility of visual system homeobox 1 (VSXI) as a candidate susceptibility gene for Korean patients with keratoconus, we performed a mutation screening of the VSXI gene in 249 unrelated patients with keratoconus and 208 control subjects without the ocular disorder. We found two heterozygous novel missense mutations in exon 2: N151S and G160V. The G160V mutation was identified in 13 keratoconus patients (5.3%), and the N151S mutation was found in only one keratoconus patient (0.4%). We also detected three synonymous polymorphisms and four intragenic polymorphisms. The IVS1-11*a allele was associated with a significantly increased risk of keratoconus in Korean patients [3.6 vs. 0.5%, p = 0.001, odds ratio (OR) = 7.76, 95% confidence interval (CI) 1.989-30.241). Other polymorphisms did not show an association with keratoconus risk. Our data is the first reported VSX1 mutation screening in Korean keratoconus patients. We detected two novel missense mutations and one intragenic polymorphism in the VSX1 gene, which show a strong statistical association with unrelated keratoconus patients. Consequently, our study suggests that VSX1 gene variants seem to be significant genetic variants for keratoconus predisposition in unrelated Korean patients.
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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.