XRCC1 variants do not represent a risk for dermatomyositis and systemic lupus erythematosus in Bulgarian patients

Acta Dermatovenerol Alp Pannonica Adriat. 2019 Dec;28(4):149-152.


Introduction: Systemic lupus erythematosus (SLE) and dermatomyositis (DM) share a similar pathogenesis, and genetic, hormonal, and environmental factors are known to trigger the autoimmune process. The X-ray repair cross-complementing genes (XRCC1 and XRCC3) are known to play a central role in mammalian DNA repair processes. Evidence suggests that impaired DNA repair efficiency is implicated in the development of autoimmune diseases. This case-control study investigates the association between the XRCC1 Arg194Trp (C>T) and Arg399Gln (G>A) polymorphisms and the susceptibility to DM and SLE in Bulgarian patients.

Methods: Altogether 88 patients, 55 with SLE and 33 with DM, and 94 unrelated healthy controls were included in this study.

Results: None of the polymorphisms showed an association with SLE, DM, or their clinical parameters. The allele and genotype frequency of the two single nucleotide polymorphisms was similar to those found in other healthy Caucasian populations.

Conclusions: Our results indicate that the XRCC1 rs1799782 Arg194Trp and rs25487 Arg399Gln polymorphisms do not play a role in the susceptibility to SLE and DM.

MeSH terms

  • Adult
  • Aged
  • Bulgaria
  • Dermatomyositis / epidemiology
  • Dermatomyositis / genetics*
  • Female
  • Genetic Variation
  • Humans
  • Lupus Erythematosus, Systemic / epidemiology
  • Lupus Erythematosus, Systemic / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • X-ray Repair Cross Complementing Protein 1 / genetics*


  • X-ray Repair Cross Complementing Protein 1
  • XRCC1 protein, human