FOXP3 Genetic Variation at Position -2383 C/T (rs3761549) in Patients with Breast Cancer

Abstract

Background:We investigated the possibility of an association between the C-2383T polymorphism (rs3761549) in the promoter region of the FOXP3 gene with breast cancer. Methods: The study groups consisted of 250 women diagnosed with breast cancer (case group) and 250 healthy women (control group). Polymerase chain reactionrestriction fragment length polymorphism was performed for genotyping. Results: Breast cancer cases had a C allele frequency of 455 (91%) and T allele frequency of 45 (9%). The control group had a C allele frequency of 468 (93.6%) and 32 (6.4%) for the T allele. The CC genotype was present in 206 (82.4%) patients, 43 (17.2%) patients had the CT genotype, and the TT genotype was observed in 1 (0.4%) patient. In the control group, 219 (87.6%) had the CC genotype, whereas 30 (12%) had the CT genotype, and 1 (0.4%) had the TT genotype. Statistical analysis revealed no significant differences in the distribution of alleles and genotypes between patients and controls (P>0.05). There was no significant association between genotype distribution and patients' clinicopathological factors. Conclusion: Our results do not support an association between the FOXP3 -2383 C/T polymorphism and breast cancer in a population from southern Iran.

Keywords

• Breast cancer
• FOXP3 gene
• Single Nucleotide Polymorphism
• PCR-RFLP