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.
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http://dx.doi.org/10.1080/13816810.2016.1217548 | DOI Listing |
Orphanet J Rare Dis
September 2023
Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Background: Gyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene, encoding the enzyme ornithine δ-aminotransferase. Impaired enzymatic activity leads to systemic hyperornithinaemia, which in turn underlies progressive chorioretinal degeneration. In this study, we describe the clinical and molecular findings in a cohort of individuals with gyrate atrophy.
View Article and Find Full Text PDFIndian J Ophthalmol
May 2023
Department of Ophthalmology, AIIMS Bhopal, Madhya Pradesh, India.
Purpose: To study the epidemiological pattern, prevalence, types, and correlates of age-related cataracts in a tertiary care center in central India.
Methods: This hospital-based single-center cross-sectional study was conducted on 2,621 patients diagnosed with cataracts for 3 years. Data pertaining to demography, socio-economic profile, cataract grading, cataract types, and associated risk factors were evaluated.
J Ophthalmic Vis Res
April 2022
Department of Public Health, University of Helsinki, Helsinki, Finland.
Purpose: To examine the association between the use of topical non-steroidal anti-inflammatory (NSAID) medication, systemic statin therapy, and the incidence rate of two of the most common postsurgical procedures in adult patients undergoing cataract surgery in Finland between January 1, 2010 and December 31, 2016.
Methods: This retrospective, nationwide cohort study considered 176,052 cataract operations coded with the International Classification of Disease coding: early adult (H25.0), normal (H25.
Clin Kidney J
August 2019
Néphrologie et Médecine Interne, CH Valenciennes, Valenciennes, France.
Background: MYH9-related diseases (MYH9-RD) are autosomal dominant disorders caused by mutations of the gene encoding the non-muscle myosin heavy chain IIA. They are characterized by congenital thrombocytopenia, giant platelets and leucocyte inclusions. Hearing impairment, pre-senile cataract and nephropathy can also occur.
View Article and Find Full Text PDFEur J Neurol
November 2017
Center for Human Molecular Genetics, University of Belgrade Faculty of Biology, Belgrade, Serbia.
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