Association Study of rs478 and rs69657 Polymorphisms of PTPRZ Gene with Multiple Sclerosis in Iranian Population

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 polypeptid (PTPRZ) has been implicated in adult cell renewal, repair of the nervous system, oligodendrocyte development and so in Remyelination. We investigated possible association of multiple sclerosis with polymorphism of two SNPs (rs478 and rs69657) located in PTPRZ gene.

Peripheral blood was collected from 40 subjects with MS and 65 healthy controls and DNA was extracted. For genotyping of rs478 and rs696575, PCR-RFLP and mismatch PCR-RFLP techniques were used, respectively. Association of SNPrs478 and SNPrs696575 with multiple sclerosis was examined 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.

Statistical analyses on two studied polymorphisms showed that both case and control group were in Hardy-Weinberg equilibrium. By using χ test, the difference between frequency of SNPrs478 Risk allele vs. other allele in control and case groups was p=0.77 and for SNPrs696575 was p=0.669. The difference between frequency of Homozygosity vs. other genotypes in control and case groups for SNPrs478 was p=0.77 and for SNPrs696575 was p=0.64.

According to the χ test results, the differences were not significant for studied SNPs. As a conclusion, we did not find association between SNPrs478 and SNPrs696575 of PTPRZ and multiple sclerosis in Iranian population.