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FOXP3 gene polymorphism is associated with Chronic
Hepatitis B in China#
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CHEN Yanhui1, ZHANG Henghui1, WANG Yan2, LIAO Weijia2, QIN Liling2, XIE
Xingwang1, FEI Ran1, WANG Xueyan1, MEI Minghui2, WEI Lai1, CHEN
Hongsong1**
(1. Peking University People’s Hospital, Peking University Hepatology Institute, Beijing Key
Laboratory of Hepatitis C and Immunotherapy for Liver Diseases, Beijing 100044;
2. Affiliated Hospital of Guilin Medical University, Guilin 541004)
Abstract: Background and aims: 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 and focus of infection 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 polymorphisms (SNPs) of FOXP3 gene and the susceptibility of Chronic Hepatitis B
(CHB). Methods: Two SNPs rs2280883 and rs3761549 of FOXP3 gene in 344 patients with CHB and
372 matched controls were analyzed by Matrix-Assisted Laser Desorption/ Ionization Time of Flight
Mass Spectrometry (MALDI-TOF). Results: At rs2280883 and rs3761549, there were no significant
differences in the distribution of C and T alleles between CHB donors and healthy donors. Compared
with healthy controls, patients with CHB had higher frequencies of TT genotype (74.1%) at rs2280883
or CC genotype (74.6%) at rs3761549 of FOXP3 gene. Patients who carried rs2280883 TT genotype
(OR 1.1268 [95%CI 0.8097-1.5680], P0.01) or rs3761549 CC genotype (OR 1.6291 [95%CI
1.1774-2.2541], P0.00001) had high risk of suffering from CHB. Stratified analysis showed that
rs2280883 TT/CT genotype was significantly associated with high incidence of HBeAg (P0.01), and
rs3761549 TT/CT genotype was also significantly associated with high incidence of HBeAg (P0.01).
Conclusions These results suggested that FOXP3
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