Abstract
Multiple sclerosis (MS) is an inflammatory demyelinating disease of central nervous system (CNS) that mostly affects young adults. The etiology of MS includes both genetic and environmental factors. A single nucleotide polymorphism (SNP) linked with autoimmune disorders predisposition, identified by Genome-Wide Association Study (GWAS) among genes which immunologically related are considerably over signified. The goal of the current study is investigation of the association between rs1800795 (-174 G/C) polymorphism in the promoter of IL6 gene variant with the risk of RRMS in a subset of Iranian population. In this case-control study, 110 healthy subjects and 110 patients with RRMS were included. DNA was extracted from blood samples and polymerase chain reaction (PCR) was used to amplify the fragment of interest contain rs1800795 SNP, restriction fragment length polymorphism (RFLP) method was performed for genotyping of the DNA samples with a specific restriction enzyme (NlaIII). SPSS for Windows software (version 18.0; SPSS, Chicago, IL) was used for statistical analysis. No significant differences were found between RRMS patients and healthy controls with respect to the distribution of the cytokine gene polymorphism investigated. Odds ratio adjusted for age, sex, and blood groups (except A blood group) has displayed similar outcomes. These results indicate that the rs1800795 SNP is not a susceptibility gene variant for development of RRMS in the Isfahan population. Further studies using new data on complex transcriptional interactions between IL-6 polymorphic sites are necessary to determine IL-6 haplotype influence on susceptibility to RRMS.
Highlights
Multiple sclerosis (MS) is considered a chronic inflammatory neurodegenerative disease of the central nervous system (CNS) that leads to important disability including mental, physical, and occasionally psychiatric complications and mostly affects young adults [1] [2]
Recent studies have demonstrated that interleukin 6 (IL-6) is involved in regulating the balance between IL-17 producing TH17 cells and T-reg cells [21]. -174 G/C in the promoter of IL6 gene polymorphism has been positively correlated with some autoimmune diseases and other authors have investigated this polymorphism in respect to type 2 diabetes [10], systemic lupus erythematosus [11], systemic sclerosis [7], and MS [13]
When we compared the GG and GC genotypes against CC genotype as reference, the association between rs1800795 single nucleotide polymorphism (SNP) genotypes and Relapsing-Remitting Multiple Sclerosis (RRMS) risk was examined in subgroups of both subjects stratified by gender, age and blood groups (Table 3)
Summary
Multiple sclerosis (MS) is considered a chronic inflammatory neurodegenerative disease of the central nervous system (CNS) that leads to important disability including mental, physical, and occasionally psychiatric complications and mostly affects young adults [1] [2]. Notable advance was made in detection of susceptible genes in which single nucleotide polymorphisms (SNPs) involved in autoimmune diseases. Many association studies of polymorphic immune-associated genes described for autoimmune disorders. Several studies have investigated whether a promoter region polymorphism in the gene encoding interleukin 6 (IL-6), might enhance susceptibility to some autoimmune disorders [10]-[13]. It was demonstrated that polymorphisms within the critical promoter or other regulatory regions of several cytokine genes can modify the activity of transcription resulting in inter-individual differences in the levels of cytokine production. These variations may influence the outcome of infections and increase susceptibility to autoimmune disorders. The purpose of this study is to specify whether the rs1800795 SNP in the IL-6 gene have been studied in other autoimmune disease is associated with the susceptibility to MS in Isfahan population
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