Genetic predisposition plays a significant role in the development of ovarian cancer (OC). Genetic variants in DNA repair genes, including XRCC1, may be significant markers for this disease. We aimed to assess the association of XRCC1 rs1799782 and rs25487 with ovarian cancer risk via a case-control study in Bashkortostan and a subsequent meta-analysis. Materials and Methods: This study included DNA samples isolated from venous blood of patients with ovarian cancer (n = 227) and women without cancer (n = 286). Genotyping of XRCC1 polymorphisms (rs1799782, rs25487) was performed using PCR-RFLP analysis. We assessed Hardy-Weinberg equilibrium and calculated odds ratios (ORs) with 95% CIs. Additionally, we conducted a meta-analysis incorporating our data with previously published studies. Pooled ORs were calculated using fixed- and random-effects models. Results: The rs1799782 polymorphism showed no significant association with ovarian cancer risk in the case-control study (p > 0.05), consistent with the low heterogeneity observed in the meta-analysis (I² = 35.2%). For rs25487, the A allele was associated with decreased ovarian cancer risk in the Bashkortostan population (p = 0,035). However, the meta-analysis revealed the opposite trend, with the same allele conferring increased risk of gynecologic malignancies (OR = 1.18, 95% CI: 1.00–1.39, p = 0.046), alongside substantial heterogeneity (I² = 69%). This pooled estimate aligns with previous meta-analyses reporting increased risk in Asian populations. Conclusion: XRCC1 rs25487 exhibits population-specific effects on ovarian cancer risk: protective in the Bashkortostan population but risk-associated globally. rs1799782 shows no association with ovarian cancer, despite its reported role in other gynecologic malignancies. These findings underscore the need for population-stratified genetic studies.
| Attachment | Size |
|---|---|
 06_Andreeva_67-78.pdf | 1.41 MB |
