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

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.

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.

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.

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.