The Frequency of TIM-3-1541C>T Polymorphisms and its Association with Multiple Sclerosis

Abstract

Background: Multiple sclerosis (MS) is an organ-specific autoimmune disease in central nervous system, which about 2.5 million people around the world are suffering from it. Various factors including environmental and genetic factors are involved in the incidence of the disease. T cell immunoglobulin and mucin (TIM) gene is one of the genetic factors which recently demonstrated that has critical role in autoimmune diseases. In this study, the frequency and the association of TIM-3-1541C>T polymorphisms with multiple sclerosis disease in Isfahan, Iran, population were investigated. Methods: Blood samples were collected from 140 patients with multiple sclerosis and 138 healthy controls. After DNA extraction, the TIM-3-1541C>T polymorphism was detected via polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques. The results were analyzed with the SPSS16.0 software package. Findings: The frequency of CT genotype in patients with multiple sclerosis was higher than the control group and there was a significant association between multiple sclerosis and TIM-3-1541C>T polymorphism in Isfahan population (P = 0.009, OR = 4.08). Conclusion: T cell immunoglobulin and mucin gene family (TIM) is located on human chromosome 5q33.2 and play a critical role in regulating immune responses including allergy, transplant tolerance and autoimmunity. This study was done based on the results of previous studies about the association of TIM-3-1541C>T with rheumatoid arthritis, since the mechanisms of pathogenesis of this disease and multiple sclerosis are similar. Our results showed that TIM-3-1541C>T polymorphism is associated with multiple sclerosis in Isfahan population.

Keywords

• Multiple sclerosis
• T cell immunoglobulin and mucin (TIM) gen
• Polymorphism