Document Type: Special Articles

Authors

1 Department of Biochemistry, Payame Noor University, Tehran, Iran.

2 Departmanet of Genetic, School of Sciences, Shahid Chamran University, Ahvaz, Iran.

Abstract

Background:  Multiple  sclerosis  (MS) is a  chronic inflammatory  demyelinating  and  neurodegenerative disease  of central  nervous  system  with unknown  causes. Etiology of MS involves  both  genetic  and  environment factors.  The  interleukin  7   receptor   (IL7R)   gene   is  a promising candidate  for MS, because its involvement in the autoimmunity, regulation of the T-cell homeostasis, proliferation, and anti-apoptotic signaling.Methods: We investigated  the association of the IL7R gene polymorphism  rs6897932  in MS patients   in a  case  and control study. In this case and control study participating, 127  relapsing-remitting  MS (RRMS)  patients   (mean  age: 32.25, age range: 16-57) selected  according McDonald criteria, and 109 ethnically, sex and age matched  healthy control   (mean  age:  27.44,  age   range:  14-63)  with  no personal  or family history of autoimmune diseases  were studied. DNA was extracted  from whole blood using high pure  polymerase  chain reaction  template preparatio  kit from  Roch  Company.  Amplification refractory  mutation system method was applied to define the genotyping C/T within exon 6 of the IL7R gene among individuals.Results: Evaluation   of  the   IL7R   gene   polymorphism revealed  that  the  T allele and the  C/T and T/T genotypes are present  in 53.5%, 42.5%, 4.0%, and 68.8%, 26.6%, 4.6% in  MS patients   and   controls,  respectively.  Comparison between alleles and  genotypes in the  MS patients  and healthy controls show significant differences (P = 0.038).Conclusion: The distribution of  the rs6897932 polymorphism  is significantly different in our case/control study  in Khuzestan   Province.  This  single  nucleotide polymorphism  causes alternative  splicing in exon 6 of the IL7R gene with possible influence of the autoimmunity.