Investigation of a genetic variation of a variable number tandem repeat polymorphism of interleukin-6 gene in patients with multiple sclerosis

J Neurol. 2003 May;250(5):607-11. doi: 10.1007/s00415-003-1051-y.

Abstract

Interleukin-6 (IL-6) plays an important role in the regulation of the inflammatory response in multiple sclerosis (MS) and its animal model, experimental autoimmune encephalomyelitis (EAE). Previous reports indicated that the C allele of a variable number tandem repeat (vntr) polymorphism located in the 3'flanking region of the IL-6 gene ( IL-6) is associated with reduced activity of IL-6 in vivo. Since disease-modifying genes are likely to contribute to phenotypic differences in MS patients, we tested the hypothesis that the IL-6 C allele is associated with the clinical course of MS. The IL-6 C allele was equally distributed between 217 MS patients of German Caucasian origin and 111 age-mached healthy controls. Stratification of patients according to the course of disease revealed no significant difference of IL-6 C allele distribution between patients with primary progressive and those with either relapsing-remitting or secondary progressive MS although IL-6 C allele was more frequent in patients with RR-MS. Since IL-6 C allele has been associated with a benign course in Sardinian MS patients, we further analysed an independent sample of 125 Sardinian MS patients revealing that IL-6 C allele was much more frequent than in German MS patients. Taken together, a disease-modifying effect of IL-6 C allele could not be demonstrated in MS patients of German Caucasian descent.

Publication types

  • Comparative Study
  • Multicenter Study

MeSH terms

  • Adult
  • Alleles
  • Analysis of Variance
  • Chi-Square Distribution
  • Cytosine
  • Female
  • Genetic Variation / genetics*
  • Genotype
  • Humans
  • Interleukin-6 / genetics*
  • Male
  • Middle Aged
  • Minisatellite Repeats / genetics*
  • Multiple Sclerosis / genetics*
  • Polymorphism, Genetic / genetics*

Substances

  • Interleukin-6
  • Cytosine