Relationship between polymorphisms in the CD40 gene with the prevalence of breast cancer: A case-control study

Abstract

Background. Breast cancer with a complex inheritance pattern is a major cause of cancer death among women worldwide. Single nucleotide polymorphisms (SNPs), the most common genetic variations, influence interindividual predisposition to disease and treatment outcomes with drugs. Evidence suggests that CD40 polymorphism contributes to pathogenesis of cancer. The co-stimulatory molecule CD40 plays a prominent role in immune regulation. This study aimed to test the association between polymorphisms in the CD40 gene and breast carcinogenesis in Arak, Iran. Methods. In this case-control study, three SNPs (rs1883832, rs4810485, rs3765459) were genotyped by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. We included 80 patients with breast cancer and 80 healthy controls. Statistical analysis was performed by SPSS (version 26) using Chi-Squared test at P˂ 0.05. Results. Our data showed a statistically significant association between the two CD40 SNPs (1s1883832 and rs4810485) and breast cancer risk (P=0.038 and P=0.000, respectively). There was no significant association between rs3765459 and breast cancer risk (P=0.190). Conclusion. We witnessed that CD40 gene polymorphisms (rs1883832 and rs4810485) contributed to breast cancer. So, they are associated with breast cancer risk. Practical Implications. The obtained data revealed a significant relationship between the rs1883832 and rs4810485 polymorphisms and the risk of breast cancer. Thus, these polymorphisms could be used as biomarkers to predict breast cancer.