DNA repair RAD 18 rs373572 and OGG1 rs1052133 genes polymorphisms association with histological characterization of renal cell carcinoma
Aim: Validate the association RAD18 Arg302Gln (rs373572) and OGG1 Ser326Cys (rs1052133) - with Renal Cell Carcinoma (RCC) susceptibility and histopatho- logical characterization. Materials and Methods: present study compromised of 37 patients with RCC and control group consisted of 28 healthy apparently individuals. A case control study was conducted using Hand E staining and allele-specific PCR for genes genotyping. Results: The cohort comprised cases with subtypes clear cell, chromophobe, and variant RCC. A significant link was detected between OGG1 rs1052133 and RCC risk (p = 0.006), with the GG genotype being strongly linked to disease p=0.005. Haplotype demonstrated a significant relations of the GC with RCC (p=0.013). LD test revealed a significant association between RAD18 and OGG1 loci (χ² = 9.214, p = 0.027), with r- value of 0 in cases and 0.14 in controls. Histopathological correlations revealed that OGG1 rs1052133 genotypes demonstrated a highly significant association with RCC p<0.001. RAD18 rs373572 genotypes were significantly closed link with tumor stage p=0.001. TNM classification revealed a significant relationship with RAD18 genotypes p=0.017. Conclusions: A significant relationship between OGG1 rs1052133 and both RCC susceptibility and cancer histological subtype, proposed a potential role in the pathogenesis of disease. RAD18 rs373572 showed relevance to tumor stage and TNM classification, indicating a possible impact in disease progression rather than initiation.