Cell Journal (Jan 2010)
Association Study of rs13241278 and rs2693657 Polymorphisms of PTPRZ1 Gene with Multiple Sclerosis in Iranian Population
Abstract
Objective: Human multiple sclerosis (MS) is a complex disease and demyelinated lesionsin central nervous system (CNS) are the pathologic hallmark of MS. Remyelination occursin many MS lesions but becomes increasingly incomplete/inadequate. Protein tyrosinephosphatase,receptor-type z polypeptid1 (PTPRZ1) 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 twoSNPs (rs13241278 and rs2693657) located in PTPRZ1 gene.Materials and Methods: Peripheral blood was collected from 140 subjects with MSand 165 healthy controls and DNA was extracted. For genotyping of rs13241278 andrs26936575, PCR-RFLP and mismatch PCR-RFLP techniques were used, respectively.Association of SNPrs13241278 and SNPrs26936575 with multiple sclerosis was examinedby using the Chi-square test and the frequency differences of alleles and genotypesbetween two groups were compared. A conventional p-value of ≤ 0.05 was consideredsignificant.Results: Statistical analyses on two studied polymorphisms showed that both case andcontrol group were in Hardy-Weinberg equilibrium. By using χ2 test, the difference betweenfrequency of SNPrs13241278 Risk allele vs. other allele in control and case groupswas p=0.773 and for SNPrs26936575 was p=0.669. The difference between frequency ofHomozygosity vs. other genotypes in control and case groups for SNPrs13241278 wasp=0.377 and for SNPrs26936575 was p=0.64.Conclusion: According to the χ2 test results, the differences were not significant for studiedSNPs. As a conclusion, we did not find association between SNPrs13241278 andSNPrs26936575 of PTPRZ1 and multiple sclerosis in Iranian population.
