IFNAR1 and IFNAR2 polymorphisms confer susceptibility to multiple sclerosis but not to interferon-beta treatment response

J Neuroimmunol. 2005 Jun;163(1-2):165-71. doi: 10.1016/j.jneuroim.2005.02.010. Epub 2005 Apr 22.

Abstract

We investigated the role of three polymorphisms in the IFNAR1 (SNPs 18417 and -408) and IFNAR2 (SNP 11876) genes in multiple sclerosis (MS) susceptibility and in the IFNbeta treatment response in a group of 147 patients and 210 controls undergoing interferon therapy during the last 2 years. Only the 18417 and the 11876 SNPs showed an association with disease susceptibility (p=0.001 and 0.035, respectively) although no differential genotype distribution were observed between interferon responders and non-responder MS patients. No alteration of the expression level of IFNAR-1 was observed with respect to the -408 genotypes or to interferon treatment response. These data suggest a role for the IFNAR pathway in susceptibility to MS.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Interferon-beta / therapeutic use*
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Multiple Sclerosis / genetics*
  • Multiple Sclerosis / therapy*
  • Polymorphism, Single Nucleotide / genetics*
  • Receptor, Interferon alpha-beta
  • Receptors, Interferon / genetics*

Substances

  • IFNAR1 protein, human
  • IFNAR2 protein, human
  • Membrane Proteins
  • Receptors, Interferon
  • Receptor, Interferon alpha-beta
  • Interferon-beta