Association between papillary thyroid cancer and XRCC6 gene polymorphisms in the Turkish population

Tiivistelmä

Background/aim: This study aims to investigate the association between rs2267437, rs5751129 and rs132770 polymorphisms of the XRCC6 gene, which plays a role in repairing DNA double strand breaks, and the risk of Papillary Thyroid Cancer (PTC).Methods: The study included 150 patients who had been diagnosed with PTC and 204 healthy control subjects. Genotyping of SNPs was performed by Polymerase Chain Reaction - Restriction Fragment Length Polymorphism method (PCR - RFLP).Results: In rs2267437 polymorphism, individuals with GG genotype had lower risk of PTC than wild-type CC genotype (p=0.037, 95% CI=0.19-0.96, OR=0.67). The combined genotypes CG+GG were found to be related to a reduced risk of PTC compared to the wild-type CC (p=0.023, 95% CI=0.40-0.94, OR=0.61) in the recessive model (GC+GG vs. CC). In addition, a query of the Genotype-Tissue Expression (GTEx) database showed that the rs2267437 polymorphism may alter the expression level of XRCC6 in whole blood (p=0.0009) but not in thyroid tissue. There were no significant association of rs5751129 and rs132770 polymorphisms with PTC.Conclusion: In conclusion, this study demonstrated that rs2267437 polymorphism may have a protective effect against PTC in the Turkish population. However, rs5751129 and rs132770 polymorphisms were not associated with the disease.