Association study of G+2044A (R130Q) polymorphism in IL-13 gene with risk of developing Multiple Sclerosis in Iranian population

Background: Multiple Sclerosis (MS) is an autoimmune and progressive neurodegeneration disease of the central nervous system (CNS) that diagnosed by inflammation and demyelination of neurons. MS is a multifactorial disease that occurs due to interactions between environment and genetic factors. IL-13 is a cytokine and one of the candidate genes for MS that its expression reduces in MS patients. Material and methods: In this study, 174 unrelated MS patients and 283 healthy individuals were examined. We assessed G+2044A (R130Q) polymorphism in exon 4, a single nucleotide polymorphism (SNP), in the coding region of the IL-13 gene. Genotyping of G+2044A polymorphism was performed using sequence-specific primer-polymerase chain reaction (SSP-PCR). Results: No significant association was found between Genotypes and allele frequency in patients and healthy individuals (P > 0.05). Comparison of the frequency of MS cases and healthy individuals based on ethnicity, a significant association was observed between Turkmen patients and MS with a protective role P < 0.05, OR = 0.01, CI (0.004�0.04) Moreover no significant association was seen between the inheritance models for the G+2044A SNP, but there is a significant association between gender and susceptibility to MS (P = 0.01). Conclusion: According to our results, there is no significant difference in Genotype and allele frequency of G+2044A polymorphism among MS patients and healthy individuals. But a significant association was observed between Turkmen patients and MS with a protective role. © 201