Role of the Promoter Polymorphism IL-6 −174GC in Dermatomyositis and Systemic Lupus Erythematosus

Abstract EN

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.