Investigating Prevalence of FOXP3 Gene Polymorphism in Multiple Sclerosis

Abstract

Introduction: Multiple sclerosis (MS) is a demyelinating disease of central nervous system. Lack of regulation in inflammatory responses is considered to be a key element in the auto reactive immune response in MS. The FOXP3 transcription factor is predominantly expressed by the Treg cell lineage and appears to act as a master regulator of effector T cell activation. Therefore, this study aimed to investigate the possible association between single nucleotide polymorphisms (SNP) in the FOXP3 gene and predisposition to MS. Methods: This case-control study consisted of 115 MS patients and 115 healthy controls, which were genotyped for the SNP rs 3761549. RFLP analysis was performed using AluI restriction enzyme. Results: The frequency of A allele was 15.6% in patients and 98.3% in normal controls (p=0.33). Moreover, allele G was identified as 98.1% in MS cases and 11.3 in controls. The rs 3761549(GG) was found in 84.3% of MS patients and in 88.7% of controls (p=0.33), rs 3761549 (AA) was found in 0.9% of MS cases and in 1.7% of controls (p=0.5), rs 3761549 (AG) was observed in 84.4% of MS cases and in 88.7% of controls (p=0.27). No significant difference was observed between patients and controls in regard with alleles and genotypes. Conclusion: The results of the present study suggest that the mentioned functional polymorphism is not likely to cause susceptibility to MS.( OR= 0.678 95% CI= 1.477-0.0319)

Keywords

• FOXp3
• Multiple sclerosis
• Polymorphism