DNA Repair Enzyme XRCC4 30 bp Indel Intron 3 Locus Significant Association with Predisposition of Cataract in...

Impaired DNA damage repair cascade can disrupt the lens transparency due to aging-associated oxidative stress. The aim of study was to assess the association of 30 bp indel mutation (rs28360071) in XRCC4 gene with susceptibility of cataract in senility. The study followed case-control design with a total of n = 200 participants and divided equally into senile cataract patients and control groups. Conventional polymerase chain reaction (PCR) was performed for the genotyping of XRCC4 (rs28360071) mutation. In statistical measures, SPSS ® 20.0 software, MedCal©, and SNPStats© tools were used for data analysis. Distribution of homozygous D/D and mutant D allele was higher in senile cataract patients in comparison to controls. XRCC4 (rs28360071) mutation was significantly associated with predisposition senile cataract (χ² = 13.96, adjusted OR = 2.29, 95% CI: 1.5-3.4, p < 0.001). Codominant model was suggested to be a best fit model. Mutant D/D genotype described significant association with LDL (adjusted OR = 1.67, 95% CI: 0.14-1.45, p = 0.03),and HDL (adjusted OR = 1.66, 95% CI: 0.92-2.31, p = 0.05) cholesterol with higher risk of senile cataract. XRCC4 (rs28360071) mutation may serve as a potential biomarker for the prognosis of cataract in senility. It can used to measure interruption in NHEJ repair pathway to indicate DNA damage in lens epithelial cells which could accelerate cataractogenesis with aging.