The +4259A>C polymorphism of TIM-3 but not -1637C>T polymorphism of TIM-1 is associated with Multiple sclerosis in Isfahan population.

Background: Multiple sclerosis (MS) is an inflammatory disease of the central nervous system (CNS) which initiated and mediated by autoreactive T helper1 cells directed against myelin antigens. One of T cell surface receptors is T cell immunoglobulin and mucin domain (TIM) family which its importance in immunology is recently discovered. These molecules have important immunological function by regulation of T effector cells.

Methods: In the present study, we analyzed the frequency of +4259A>C polymorphism in TIM-3 and -1637C>T polymorphism in TIM-1 gene in MS patients and healthy controls using restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) method.

Results: We found that the polymorphism +4259A>C in exon 3 of the TIM-3 gene is associated with susceptibility to the MS (P = 0.029, OR (95%CI) = 1.841) but the other polymorphism, -1637T>C, in the promoter region of TIM-1 is not (p= 0.064).

Conclusions: Our findings suggest that +4259A>C polymorphism in TIM-3 gene may be one of the important genetic factors associated with the MS susceptibility among Iranian populations.