The Association of -475 and -631 Interleukin-2 Gene Polymorphism with Multiple Sclerosis in Iranian Patients

Abstractobjective: multiple sclerosis (ms) is a chronic autoimmune disease due to demyelination ofthe central nervous system. it is believed that cytokines are involved in the pathogenesis of ms.the interleukin-2 (il2) gene is powerful functional candidate that is involved in immune regulationandoperation.inthisstudy,forthefirsttime,weinvestigatedtheeffectof-475a/tand-631g/ail2 polymorphismson ms disease in iranian patients.materials and methods: in this case-control study, 100 ms patients (mean age: 32.95± 6.51 years, age range: 20-42 years) selected according to mcdonald criteria, and100 ethnically, sex and age matched healthy controls (mean age: 29 ± 7.8 years,age range: 20-52 years) with no personal or family history of autoimmune diseaseswere studied. the restriction fragment length polymorphism-polymerase chain reaction(rflp-pcr)methodwasappliedtodefinedifferentallelesandgenotypesofil2promotersingle nucleotide polymorphism -475a/tas well as -631g/aamong individuals.? was calculated and fisher’s exact test was applied to analyze the obtaineddata. the value of p < 0.05 was considered significantly.2results: evaluation of the -475 il2 revealed that t allele and a/t genotype are presentin 2% and 4% of ms patients, respectively, whereas t allele was absent in controlsamples. the comparison between alleles and genotypes in ms patients and healthycontrols was not significant (p=0.1). for the -631 position, 1% and 2% of ms patientscarried a allele and a/g heterozygote genotypes, respectively. all control samples hadg allele and g/g genotype. the differences between patients and controls were notsignificant (p=0.4). moreover, our results showed a very low frequency of t at -475 anda at -631 il2 position in each of the two groups. conclusion: both -475 and -631 il2 polymorphisms were higher in ms patients as comparedtocontrols,butthefrequencydifferenceswerenotsignificant.basedonthesedata,itissuggestedthat the-475and -631il2polymorphisms as functional promoter position may beinvolvedin il2expression and regulation.tofindouttheexacteffectofthementionedsnpsonsusceptibility to ms, study on a larger sample size is suggested.