Association study of four polymorphisms in the interleukin-۷ receptor alpha gene with multiple sclerosis in Eastern Iran

Objective(s): Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system (CNS) with unknown etiology. Various genetics and environmental factors contribute to the pathogenesis of the disease. The interleukin-۷ receptor alpha chain (IL-۷Ra) was identified as the first non-major histocompatibility complex (non-MHC) MS susceptibility locus. In this study we are trying to find the association of IL-۷Ragene polymorphisms with MS susceptibility in Eastern Iran. Materials and Methods:A case-control study was performed in two provinces Sistan & Baluchistan and Khorasan with ۲۱۹ patients and ۲۵۸ unrelated matched healthy controls, using PCR-RFLP method for four single nucleotide polymorphisms (SNPs) rs۷۷۱۸۹۱۹, rs۱۱۵۶۷۶۸۵, rs۱۱۵۶۷۶۸۶ and rs۶۸۹۷۹۳۲ of IL-۷Ra gene. Results:We found a tendency toward association with genotyping analyses in SNP rs۷۷۱۸۹۱۹ (P=۰.۰۴۸, OR=۴.۳۴۴, and ۹۵% CI=۰.۸۹۲-۲۱.۱۴۶); also genotype and allele frequency in gender and MS subtype stratification were shown to have significant association with MS. Analysis of two provinces separately showed a significant difference in results of the allele and genotype frequencies. Moreover, haplotyping analysis showed that (GTGC) has an association only in the male secondary-progressive multiple sclerosis (SPMS) patients in comparison to the healthy controls (P=۰.۰۴۳, OR=۰.۴۱۳, and ۹۵% CI=۰.۱۷۹–۰.۹۵۵). Conclusion:IL۷-Ra could be a susceptible gene to MS within the Eastern Iran population especially after MS and gender stratification.

کلیدواژه ها:

Association study ، Haplotype ، Interleukin-۷ receptor alpha Multiple sclerosis ، SNPs