Abstract
The FOXP3 gene encodes a transcription factor and is predominantly expressed in the CD4+CD25+ regulatory T cells which plays a pivotal role in the maintenance of immune homeostasis. The defect of FOXP3 gene may provide a critical link between autoimmunity and immune deficiency. The purpose of our study was to evaluate the association of chosen polymorphisms of FOXP3 gene (rs3761549, rs3761548, rs3761547) with different clinical multiple sclerosis (MS) data of our relapsing-remitting groups of patients and in control group. The study was performed on a group consisting of 174 relapsing-remitting MS patients, diagnosed under 40 years of life, and 174 healthy volunteers. Genotyping was performed using a real-time PCR-based method by TaqMan Assays. Significant differences in distribution of allele C rs3761547 were found in male MS patients in comparison to the male healthy group (p = 0.046, OR 1.95, CI 95%). No association between MS and the other two polymorphisms was observed in males and females of both studied groups. Our data may suggest that FOXP3 rs3761547 gene polymorphism are related notably with the increased risk of MS development in males patients. To our knowledge this is the first study which indicates gender-specific relation between rs3761547 FOXP3 gene polymorphism and multiple sclerosis.
Highlights
IntroductionThe FOXP3 gene (ID: 50943), forkhead box protein 3, a member of transcription factor winged-helix family, is located on chromosome Xp11.23 within the area of AIDs (autoimmune diseases) linkage
The FOXP3 gene (ID: 50943), forkhead box protein 3, a member of transcription factor winged-helix family, is located on chromosome Xp11.23 within the area of AIDs linkage
In our study we found that in Multiple sclerosis (MS) female patients with CC–TT–TT haplotype, of rs3761547, rs3761548, and rs3761549 polymorphisms occurred statistically significantly more frequently in the first generation of neoplastic diseases in the family compared to patients with MS without haplotype (p = 0.038)
Summary
The FOXP3 gene (ID: 50943), forkhead box protein 3, a member of transcription factor winged-helix family, is located on chromosome Xp11.23 within the area of AIDs (autoimmune diseases) linkage. Notwithstanding, identifying evident failure in Treg-mediated immune control in the widespread human autoimmune disorders has been difficult This may result from the diversity of the phenomenon of human autoimmunity and from the fact that both genetic and environmental factors are responsible for the disease. The purpose of our research was confirm and understand the potential role and relationship of chosen polymorphisms of FOXP3 gene (rs3761549, rs3761548, rs3761547) with different clinical MS data of our relapsing-remitting MS groups of patients and in unrelated group. This is the first study of MS patients in the Eastern part of the Polish population
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