Association Study of rs13241278 and rs2693657 Polymorphisms of PTPRZ1 Gene with MultipleSclerosis in Iranian Population

Objective: Human multiple sclerosis (MS) is a complex disease and demyelinated lesions in central nervous system (CNS) are the pathologic hallmark of MS. Remyelination occurs in many MS lesions but becomes increasingly incomplete/inadequate. Protein tyrosine phosphatase,receptor-type z polypeptid1 (PTPRZ1) has been implicated in adult cell re- newal, repair of the nervous system, oligodendrocyte development and so in Remyelina- tion. We investigated possible association of multiple sclerosis with polymorphism of two SNPs (rs13241278 and rs2693657) located in PTPRZ1 gene. Materials and Methods: Peripheral blood was collected from 140 subjects with MS and 165 healthy controls and DNA was extracted. For genotyping of rs13241278 and rs26936575, PCR-RFLP and mismatch PCR-RFLP techniques were used, respectively. Association of SNPrs13241278 and SNPrs26936575 with multiple sclerosis was exam- ined by using the Chi-square test and the frequency differences of alleles and genotypes between two groups were compared. A conventional p-value of ? 0.05 was considered significant. Results: Statistical analyses on two studied polymorphisms showed that both case and control group were in Hardy-Weinberg equilibrium. By using ?2 test, the difference be- tween frequency of SNPrs13241278 Risk allele vs. other allele in control and case groups was p=0.773 and for SNPrs26936575 was p=0.669. The difference between frequency of Homozygosity vs. other genotypes in control and case groups for SNPrs13241278 was p=0.377 and for SNPrs26936575 was p=0.64. Conclusion: According to the ?2 test results, the differences were not significant for stud- ied SNPs. As a conclusion, we did not find association between SNPrs13241278 and SNPrs26936575 of PTPRZ1 and multiple sclerosis in Iranian population.