The association of V249I and T280M fractalkine receptor haplotypes with disease course of multiple sclerosis

J Neuroimmunol. 2012 Apr;245(1-2):87-92. doi: 10.1016/j.jneuroim.2011.12.028. Epub 2012 Jan 18.

Abstract

We investigated the association of CX3CR1 genotypes/haplotypes with MS and performed the prediction analysis of protein sequence variants' effects on CX3CL1/CX3CR1 interaction. We found no association of CX3CR1 with MS susceptibility. Frequency of I(249)T(280) haplotype was significantly lower in SP compared to RR patients (RR>10 years, OR=0.30, 95%CI=0.11-0.79, p=0.01; OR=0.53, 95%CI=0.18-1.56, p=0.2, in SP<10 years vs. RR>10 years). Prediction analysis showed that I249 T280 protein variant would significantly affect CX3CL1/CX3CR1 interaction. Our results suggest that CX3CR1 I₂₄₉T₂₈₀ haplotype could have protective effect for switch to SP MS. Further research is warranted to validate and replicate currently observed results.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • CX3C Chemokine Receptor 1
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics*
  • Haplotypes / genetics*
  • Humans
  • Isoleucine / genetics
  • Male
  • Methionine / genetics
  • Middle Aged
  • Multiple Sclerosis, Chronic Progressive / epidemiology
  • Multiple Sclerosis, Chronic Progressive / genetics*
  • Multiple Sclerosis, Chronic Progressive / immunology
  • Multiple Sclerosis, Relapsing-Remitting / epidemiology
  • Multiple Sclerosis, Relapsing-Remitting / genetics*
  • Multiple Sclerosis, Relapsing-Remitting / immunology
  • Polymorphism, Genetic / genetics
  • Receptors, Chemokine / genetics*
  • Threonine / genetics
  • Valine / genetics

Substances

  • CX3C Chemokine Receptor 1
  • CX3CR1 protein, human
  • Receptors, Chemokine
  • Isoleucine
  • Threonine
  • Methionine
  • Valine