assesment of pd-1 gene variation in iranian multiple sclerosis patients

the immunoreceptor programmed cell death-1 (pd-1) is a cell surface molecule that is reported to play an important role in the regulation of peripheral tolerance. it has been shown that pd-1 gene is associated with susceptibility to the autoimmune disease systemic lupus erythematosus (sle) in humans. however, there are no reports on the association between this gene and multiple sclerosis (ms). the present study investigated the association of the pd-1 polymorphisms with ms in a iranian population sample. we investigated the existence of two single-nucleotide polymorphisms (snps), 7146g/a and exon7625c/t in the pd-1 gene in 150 patients with ms in comparison with 102 healthy control subjects. genotyping of this two single nucleotide polymorphisms (snps) in the pdcd1 gene was performed using polymerase chain reaction—restriction fragment length polymorphism (pcr rflp). the associations of alleles and genotypes with multiple sclerosis were analyzed. the pd-1.3 polymorphism had the same frequency in the iranian population with ms versus the iranian healthy controls [found in 9.3% of ms individuals vs. 10.8% in controls odds ratio (or): 0.85 confidence interval: 0.45 to 1.59]. according to our results, the polymorphic variants of pd1 do not seem to be involved in the pathogenesis of ms and do not alter the risk of developing the disease in the population studied.