ArticleInternational journal of molecular sciences2014
Polymorphism of the DNA base excision repair genes in keratoconus.
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 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Systematically Displaying the Pathogenesis of KeratoconusFrontiers in medicine · 2021Pooled it
- DNA repair and disease: insights from the human DNA glycosylase NEIL family.Experimental & molecular medicine · 2025Review
- Association of Novel Loci With Keratoconus Susceptibility in a Chinese Genome-Wide Association Study.Investigative ophthalmology & visual science · 2024Article
- Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing.Journal of ophthalmology · 2022Article
- Genetic variations in DNA repair gene NEIL1 associated with radiation pneumonitis risk in lung cancer patients.Molecular genetics & genomic medicine · 2021Article
- 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
- Variation in DNA Base Excision Repair Genes in Fuchs Endothelial Corneal Dystrophy.Medical science monitor : international medical journal of experimental and clinical research · 2015Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Keratoconus (KC) is a degenerative corneal disorder for which the exact pathogenesis is not yet known. Oxidative stress is reported to be associated with this disease. The stress may damage corneal biomolecules, including DNA, and such damage is primarily removed by base excision repair (BER). Variation in genes encoding BER components may influence the effectiveness of corneal cells to cope with oxidative stress. In the present work we genotyped 5 polymorphisms of 4 BER genes in 284 patients and 353 controls. The A/A genotype of the c.-1370T>A polymorphism of the DNA polymerase γ (POLG) gene was associated with increased occurrence of KC, while the A/T genotype was associated with decreased occurrence of KC. The A/G genotype and the A allele of the c.1196A>G polymorphism of the X-ray repair cross-complementing group 1 (XRCC1) were associated with increased, and the G/G genotype and the G allele, with decreased KC occurrence. Also, the C/T and T as well as C/C genotypes and alleles of the c.580C>T polymorphism of the same gene displayed relationship with KC occurrence. Neither the g.46438521G>C polymorphism of the Nei endonuclease VIII-like 1 (NEIL1) nor the c.2285T>C polymorphism of the poly(ADP-ribose) polymerase-1 (PARP-1) was associated with KC. In conclusion, the variability of the XRCC1 and POLG genes may play a role in KC pathogenesis and determine the risk of this disease.
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