Association between Multiple Sclerosis and FOXP3 Gene Promoter Region Mutations

Abstract

Regulatory T-Cells (Treg Cells), as one of the immune system components, have been highly effective in the autoimmune diseases prevention, particularly multiple sclerosis (MS). MS is a chronic inflammatory and autoimmune disease characterized by immune infiltration and inflammation in the central nervous system. Regulatory T (Treg) cells play an important role in the control of autoimmunity. Expression and action of the transcription factor FOXP3 controls the development and function of Treg cell. The aim of this study was to investigate the association between MS and FOXP3 gene promoter region polymorphisms rs2232365 (-924A/G) and rs3761548 (-3279A/C) in a Turkish population. In this case-control study we investigated these polymorphisms in 80 MS patients and 80 healthy controls using PCR-RFLP methods. Results of our study showed that while there is significant correlation between MS and FOXP3 rs3761548 polymorphism (p=0.031), FOXP3 rs2232365 polymorphism, has not been found to be associated with the disease (p=0.31). As FOXP3 gene is one of the most important genes in the regulation of the immune cells, it may be concluded that the expression of this gene is important in MS patients. As this SNP is located in the promoter region of the gene, it may affect the expression level of FOXP3 protein.