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

Abstract

BackgroundMultiple 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 methodsIn 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). ResultsNo 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). ConclusionAccording 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.