Türk popülasyonunda over kanserli hastalarda global genom onarım genleri polimorfizminin araştırılması

AIM: Investigate the relation between XPC rs2228001 and DDB2 rs830083 polymorphism with ovarian cancer (OC) susceptibility in the Turkish population. MATERIAL and METHODS: TaqmanR SNP Genotyping Assays and BioScience (ABI) 7500 real-time PCR system will used to genotype the single nucleotide polymorphisms (SNPs) of the XPC and DDB2 genes. Statistical analysis will be performed using SPSS version 27.0. This study will involve a group of 103 OC patients and 104 healthy individuals. RESULT: Through the XPC rs2228001 individuals with the homozygous TT genotype had a lower incidence of OC (OR 0.511, CI 95% 0.261 - 1.003) compared to individuals with the GG polymorphism had a greater risk of OC (OR 1.980, CI 95% 1.044 - 3.754). Also, the T allele was linked to a reduced incidence of OC with significant association (p-value = 0.035). While the DDB2 rs830083 homozygous GC genotype had a lower risk of OC (OR 0.521, CI 95% 0.282 - 0.961) compared to individuals with the CC polymorphism had a higher risk of OC (OR 1.895, CI 95% 1.033 - 3.476). While the G allele was linked to a lower incidence of OC with 2 fold. CONCLUSION: It is the first study that investigating the relation between XPC rs2228001 and DDB2 rs830083 genes with OC susceptibility in Turkish populations. These findings give more insight into the genetic factors associated with OC susceptibility, focusing on the importance of DNA repair systems in diseases. Additional research is required to validate these findings in more diverse and larger populations, allowing for more accurate risk assessment and possibly directing particular treatment options for OC patients. Keywords: Ovarian Cancer, Nucleotide Excision Repair, XPC rs2228001, DDB2 rs830083.