Comparing the frequency of TIM-3 polymorphism in multiple sclerosis patients with healthy controls

Abstract

Background: Multiple sclerosis (MS) is an inflammatory disease of the central nervous system (CNS) initiated and mediated by autoreactive T-helper1 cells directed against myelin antigens. One of the T-cell surface receptors is T-cell immunoglobulin and mucin domain (TIM) family. There are several single nucleotide polymorphisms (SNPs) in their sequences witch had associated with susceptibility to different autoimmune diseases. The aim of this study was to investigate th" ' us eptibility of patients with multiple sclerosis in Isfahan population, Iran, with polymorphism - 42~9A> C in TIM-3 gene. Methods: Blood samples were collected. DNA was extracted from the blood samples using Genomic DNA Extraction Kit. Polymerase chain reaction restriction fragmen length polymorphism (PCR-RFLP) was performed. TIM-3 gene was amplified using PCR. Then, the products were digested with restriction enzyme, PstI. Electrophoresis was performed for sepa ating the digested products.Findings: Genotype and allele carrier frequency between patient and healthy groups were statistically significant (P = 0.029). The odds ratio of suscept birty to multiple sclerosis for whom carrying C allele of TIM-3, compared with those who do not car. y, w as about 2 (P = 0.010).Conclusion: -4259A>C polymorphism in TIM-3 gene is associated with multiple sclerosis in Isfahan population, measuring the expression level of the genes carrying such polymorphisms and their relevant protein functional and/or structur H analysis could be helpful. © 2010, Isfahan University of Medical Sciences(IUMS). All rights reserved.