Study of association between pre-senile cataracts and rs11615 of ERCC1, rs13181 of ERCC2, and rs25487 of XRCC1 polymorphisms in a Spanish population
| Autor: | Vicente Polo-Llorens, Rogelio González-Sarmiento, Luis E. Pablo-Júlvez, José Manuel Larrosa-Povés, Elena García-Martín, Fernando Cruz-González, Gloria López-Valverde, Javier Fernández-Mateos |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine Genotype genetic structures DNA repair Biology Real-Time Polymerase Chain Reaction Polymorphism Single Nucleotide Cataract Diabetes Complications 03 medical and health sciences XRCC1 0302 clinical medicine Cataracts Risk Factors medicine Humans SNP Genetic Predisposition to Disease Genetic Association Studies Genetics (clinical) Aged Retrospective Studies Xeroderma Pigmentosum Group D Protein Aged 80 and over Genetics Smoking Middle Aged Endonucleases medicine.disease eye diseases DNA-Binding Proteins Spanish population Alcoholism Ophthalmology X-ray Repair Cross Complementing Protein 1 030104 developmental biology Hypertension Pediatrics Perinatology and Child Health 030221 ophthalmology & optometry ERCC2 Female sense organs ERCC1 |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| ISSN: | 1744-5094 1381-6810 |
| DOI: | 10.1080/13816810.2016.1217548 |
| Popis: | [Background]: The purpose of this study was to attempt to determine if the presence of certain polymorphisms in the DNA repair genes (ERCC1, ERCC2, and XRCC1) is associated with pre-senile cataract development. [Materials and methods]: We performed a retrospective study over three groups of patients. The first group with pre-senile cataract was formed by 72 patients younger than 55 years with cataract surgery. The second group with senile cataract was formed by 101 patients older than 55 years with cataract surgery. And the third group, without cataract, was formed by 42 subjects older than 55 years without lens opacities. We analyzed the presence of SNP rs11615 from ERCC1, rs13181 from ERCC2, and rs25487 from XRCC1 and the relationship between risk factors such as smoking, alcohol intake, hypertension, and diabetes. [Results]: The comparison of the genotype distribution in ERCC1 and ERCC2 did not show any statistically significant association in any of our analyses (p > 0.05). The comparison of the genotype distribution in XRCC1 within the different groups did not show any statistically significant associations (p > 0.05), except for the comparison between the pre-senile cataract group and the group without cataract, where an increased risk of developing pre-senile cataract for the genotype Gln/Gln (p = 0.029; OR = 1.02–40.67) in recessive inheritance models was observed when adjusting for risk factors. [Conclusions]: Allelic variants in ERCC1 and ERCC2 are not associated with an increased risk of developing pre-senile cataract. The presence of Gln/Gln in XRCC1 in the pre-senile cataract group with regard to the group without cataract is associated with a major risk of developing pre-senile cataract. |
| Databáze: | OpenAIRE |
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