Objective The forkhead transcription factor FOXP3 is a key molecular which can mediate regulatory T cells immune-related inhibitory functions. Increased levels of FOXP3-positive Tregs in peripheral blood have been proved to be associated with a less favorable prognosis in various inflammatory diseases. It is of great interest to investigate the correlation between single nucleotide polymorphism (SNP) of FOXP3 gene and the susceptibility of chronic hepatitis B (CHB).
Methods Two SNPs rs2280883 and rs3761549 of FOXP3 gene in 285 patients with CHB and 295 matched controls were analyzed by Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF).
Results At rs2280883, there were no significant differences in the distribution of C and T alleles between CHB donors and healthy donors, but at rs3761549, C allele was associated with CHB (P = 0.001). Compared with healthy controls, patients with CHB had high frequencies of TT genotype (73.7%) at rs2280883 or CC genotype (73.6%) at rs3761549 of FOXP3 gene. Patients who carried rs2280883 CC genotype [OR 1.744 (95% CI 1.068 - 2.848), P = 0.011] or rs3761549 CC genotype [OR 1.633 (95% CI 1.146 - 2.327), P = 0.0001] had higher risk of suffering from CHB. Stratified analysis showed that rs3761549 CC genotype was significantly associated with high incidence of HBeAg (P = 0.019).
Conclusions These results suggested that FOXP3 gene polymorphism at rs2280883 and rs3761549 might be associated with the increased susceptibility to CHB.