Role of the promoter polymorphism IL-6 -174G/C in dermatomyositis and systemic lupus erythematosus

Biomed Res Int. 2013:2013:315365. doi: 10.1155/2013/315365. Epub 2013 Sep 11.

Abstract

The promoter polymorphism -174G/C within the interleukin-6 gene (IL-6) has been reported to have a functional importance through the modulation of IL-6 gene expression in vitro and in vivo. IL-6 is thought to play an important role in autoimmune diseases and the effect of its receptor inhibitor-tocilizumab-has been recently studied. The aim of this case-control study was to investigate the association between the interleukin-6 -174G/C single nucleotide polymorphism and the susceptibility to dermatomyositis (DM) and systemic lupus erythematosus (SLE) in Bulgarian patients. Altogether, 87 patients-52 with SLE and 35 with DM-as well as 80 unrelated healthy controls were included in this study. All of them were analyzed by restriction fragment length polymorphism analysis (RFLP). The GG genotype and the G allele appeared to be associated with SLE, especially in women. None of the genotypes showed an association with DM. However, the G allele appeared to be associated with muscle weakness and it is a risk factor for elevated muscle enzymes. Our results indicate that IL-6 -174G/C polymorphism might be associated with the susceptibility to SLE especially in women. Although it is not associated with DM, it seems that IL-6 -174G/C polymorphism could modulate some clinical features in the autoimmune myopathies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • Dermatomyositis / genetics*
  • Dermatomyositis / pathology
  • Female
  • Genetic Association Studies*
  • Genotype
  • Humans
  • Interleukin-6 / genetics*
  • Lupus Erythematosus, Systemic / genetics*
  • Lupus Erythematosus, Systemic / pathology
  • Male
  • Middle Aged
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • Sex Characteristics

Substances

  • Interleukin-6