Background: Genetic polymorphisms in IL-7R are associated with the risk of development of multiple diseases, including breast malignancy. At present, no evidence exists for an influence of gene polymorphism of IL-7R on BC susceptibility in Saudi Arabian populations. The aim of the study was therefore to evaluate whether common polymorphisms in the IL-7R gene (rs1053496 and rs12516866) are correlated with the risk of BC development among Saudi Arabian women.
Methods: In total, 243 samples were collected and divided in to two cohorts: 127 female Saudi patients with BC and 116 age-matched healthy individuals as a control group. Genomic DNA was extracted from peripheral blood samples of individuals of both groups. The IL-7R rs1053496 and rs12516866/T gene variations were genotyped using the TaqMan assay. Odds ratios and 95% confidence interval were computed from logistic regression models after adjusting for age and estrogen status of the BC group.
Results: The IL-7R gene promoter variant rs12516866 was correlated with a decreased risk of breast cancer development among the estrogen receptor negative (ER-) participants. The TT homozygote mutant genotype and the T mutant allele provided significant protection against the susceptibility to breast cancer, suggesting that the presence of that genotype and allele is a vital protective factor against BC susceptibility. However, the presence of IL-7R rs1053496 was not significantly associated with BC development in the study population.
Conclusions: Our findings suggest that the IL-7R gene rs12516866 polymorphism could serve as a potential biomarker for early detection of BC among female Saudi individuals.