ArticleInternational journal of molecular sciences2014
Polymorphism of the flap endonuclease 1 gene in keratoconus and Fuchs endothelial corneal dystrophy.
Article in International journal of molecular sciences, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Systematically Displaying the Pathogenesis of KeratoconusFrontiers in medicine · 2021Pooled it
- Review
- Association of Novel Loci With Keratoconus Susceptibility in a Chinese Genome-Wide Association Study.Investigative ophthalmology & visual science · 2024Article
- Diseases of the corneal endothelium.Experimental eye research · 2021Review
- Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis.Progress in retinal and eye research · 2021Review
- The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy.Molecular diagnosis & therapy · 2019Review
- Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.Frontiers in genetics · 2019Article
- Do age-related macular degeneration genes show association with keratoconus?Eye and vision (London, England) · 2019Article
- Genetic Polymorphisms of Catalase and Glutathione Peroxidase-1 in Keratoconus.Iranian journal of public health · 2018Article
- rs4246215 is targeted by hsa-miR1236 to regulate FEN1 expression but is not associated with Fuchs' endothelial corneal dystrophy.PloS one · 2018Article
- Genomic strategies to understand causes of keratoconus.Molecular genetics and genomics : MGG · 2017Review
- Association between FEN1 Polymorphisms -69G>A and 4150G>T with Susceptibility in Human Disease: A Meta-Analysis.Iranian journal of public health · 2015Review
- Analysis of VSX1 Variations in Brazilian Subjects with Keratoconus.Journal of ophthalmic & vision researchArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Oxidative stress is implicated in the pathogenesis of many diseases, including serious ocular diseases, keratoconus (KC) and Fuchs endothelial corneal dystrophy (FECD). Flap endonuclease 1 (FEN1) plays an important role in the repair of oxidative DNA damage in the base excision repair pathway. We determined the association between two single nucleotide polymorphisms (SNPs), c.-441G>A (rs174538) and g.61564299G>T (rs4246215), in the FEN1 gene and the occurrence of KC and FECD. This study involved 279 patients with KC, 225 patients with FECD and 322 control individuals. Polymerase chain reaction (PCR) and length polymorphism restriction fragment analysis (RFLP) were applied. The T/T genotype of the g.61564299G>T polymorphism was associated with an increased occurrence of KC and FECD. There was no association between the c.-441G>A polymorphism and either disease. However, the GG haplotype of both polymorphisms was observed more frequently and the GT haplotype less frequently in the KC group than the control. The AG haplotype was associated with increased FECD occurrence. Our findings suggest that the g.61564299G>T and c.-441G>A polymorphisms in the FEN1 gene may modulate the risk of keratoconus and Fuchs endothelial corneal dystrophy.
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Registered trials
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