Polymorphisms of DNA repair genes XRCC1 and XPD and risk of primary open angle glaucoma (POAG)

PURPOSE Oxidative DNA damage has been shown to have some role in the development of primary open angle glaucoma (POAG). In this study, we aimed to determine the frequency of polymorphisms in two DNA repair enzyme genes, Xeroderma pigmentosum complementation group D (XPD) codon 751 and X-ray cross-complementing group 1 (XRCC1) codon 399, in a sample of Turkish patients with POAG, and to evaluate their association with POAG development. METHODS We used polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP), to analyze XRCC1-Arg399Gln and XPD -Lys751Gln polymorphisms in 144 patients with POAG and in 121 disease-free controls, who were of a similar age. RESULTS There was no significant difference in the genotype distribution between POAG patients and controls for each polymorphism (p>0.05). Allele frequencies were also not statistically different between the groups (p=0.46; OR: 0.77; 95% CI:0.42-1.43 for XRCC1 399Gln and p=0.88; OR: 0.92 95% CI: 0.50-1.67 for XPD 751Gln). CONCLUSIONS Polymorphisms in XPD codon 751 and XRCC1 codon 399 were not associated with risk of POAG in a sample of Turkish patients.