Association between CASP8 Gene Polymorphism and Breast Cancer in a Northeastern Iranian population

Introduction and Aim: Breast cancer is reported to cause the highest mortality among female cancer patients. Previous studies have explored the association of rs3769821 polymorphism in the promoter region of the CASP8 gene with multiple solid tumors. However, no studies exist, so far, on the role of this variation in breast cancer risk in Iran. The present study aimed to assess the association between rs3769821 polymorphism and breast cancer in the Northeast of Iran population.Methods: 293 patients, who referred to a private oncology clinic, and 519 healthy controls that referred to clinician for screening, were included in this study. A CASP8 gene polymorphism, rs3769821, was genotyped using RFLP-PCR. Allelic and genotype frequencies as well as pathologic features were determined in both groups. Statistical analysis was performed using SPSS Ver16. P-values less than 0.05 were considered as significant. Results: Genotype analysis of CASP8 showed a statistically significant association of rs3769821 GG with susceptibility to breast cancer. The G allele conferred a significantly (p= 0.006) increased risk of breast (OR= 1.41, CI 95% (1.10- 1.82)). There was no association between rs3769821 and tumoral pathologic features.Conclusions: Our findings revealed that rs3769821 polymorphism of CASP8 gene may confer some degree of breast cancer risk in the Northeastern Iranian population. However, further studies with a larger sample size, extended to other polymorphisms, could further elucidate the influence of CASP8 genetic variants on the risk of breast cancer.

کلیدواژه ها:

Breast cancer ، Casp8 ، Polymorphism ، rs3769821 ، RFLP-PCR ، Association