Transcription factor FOXP3 gene variants affect epithelial ovarian carcinoma in the Han Chinese population.

BACKGROUND: Epithelial ovarian cancer (EOC) is the most common cause of death among gynecological cancers. FOXP3 gene is the most dependable marker for regulatory T cells (Treg) which play a major role in immune tolerance. The aim of this study was to explore whether the FOXP3 gene polymorphisms (rs3761548 A/C and rs5902434del/ATT) were associated susceptibility and prognosis for EOC. METHODS: A total of 455 ovarian cancer patients and 337 healthy female controls were enrolled. Genotyping of FOXP3 polymorphisms rs3761548 A/C was determined by polymerase chain reaction-restrictive fragment length polymorphism (PCR-RFLP), while rs5902434 del/ATT was directly visualized in a 6% polyacrylamide gel electrophoresis stained after PCR. Kaplan-Meier method and Cox regression analysis were used to find an association between the FOXP3 gene and survival of EOC patients. RESULTS: Data showed that AC genotype of FOXP3 rs3761548 was associated with the high susceptibility of EOC (overdominant model: OR=1.42, 95% CI=1.07-1.89, P=0.015), while AA genotype showed lower risk for ovarian cancer compared with CC/AC genotypes (OR=0.45, 95% CI=0.23-0.90, P=0.022). In contrast, there were no significant differences for rs5902434 polymorphism of FOXP3 in ovarian cancer patients and controls. However, del/ATT genotype might be an independent risk factor for EOC prognosis in the dominant (HR=2.60, 95% CI=1.26-5.38, P=0.010) and overdominant (HR=2.46, 95% CI=1.31-4.61, P=0.005) models. CONCLUSIONS: Our findings suggest that rs3761548 could contribute to EOC risk in a Chinese Han population. Rs5902434 polymorphisms might be a marker to identify high risk patients.