The role of IL-17 rs2275913, IL-17RC rs708567 and TGFB1 rs1800469 SNPs and IL-17A serum levels in patients with lupus nephritis.

Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease and polymorphisms in the cytokine genes and their receptors are thought to influence its development. The aim of this case-control study was to investigate the association of the IL-17A rs2275913, IL-17RC rs708567 and TGFB1 rs1800469 polymorphisms with SLE, its clinical manifestations and the polymorphisms influence on the IL-17A serum levels. Altogether 59 SLE patients with lupus nephritis and 95 healthy controls were genotyped by TaqMan assay.

polymorphisms and promoter hypermethylation in dermatomyositis - the role of cytosine-phosphate-guanine-related single nucleotide polymorphisms.

Background: Decreased expression of the T cell receptor (TCR) ζ-chain has been reported in autoimmune diseases. Recent evidence suggests that this deficiency may be due to polymorphisms in the CD3Z (CD247) gene and/or due to promoter hypermethylation.

Methods: Altogether 131 subjects - 36 with dermatomyositis (DM) and 95 healthy controls were genotyped for rs1052230 G > C and rs1052231 T > A polymorphisms using TaqMan assay.

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

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.

Genetically Determined TNF-α Secretion Influences the Development of Dermatomyositis and Systemic Lupus Erythematosus.

Background: Abnormal secretion of TNF-α is known to play a role in the pathogenesis of dermatomyositis and systemic lupus erythematosus.

Materials And Methods: In the present study we have analyzed the concentrations of TNF-α in the sera of 30 patients with systemic lupus erythematosus (SLE), 28 with dermatomyositis (DM) and 30 healthy controls by standard ELISA tests.

Results: We have found that -308A allele increases TNF-α secretion, while -1031C and -863A alleles decrease it.

The Role of CD247 Polymorphisms in Bulgarian Patients with Systemic Lupus Erythematosus.

Decreased expression of the TCR ζ-chain has been reported in several autoimmune and inflammatory diseases. Recent evidence suggests that this deficiency may be due to polymorphisms in the CD247 gene. A total 52 patients with systemic lupus erythematosus (SLE) and 95 healthy controls of Bulgarian ethnicity were genotyped for 837C>G, rs1052230, 844A>T, and rs1052231 using a TaqMan genotyping assay.

Monoclonal Antibody Drugs for Systemic Lupus Erythematosus.

Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease which engages most of the immune cells in its development. Various studies concerning the application of antibodies against TNF-α, BlyS, CD20, CD22, IL-6R and complement factors in treatment of SLE have been recently conducted and in spite of the good results reported by some of them, no definite conclusion on their risk-benefit profile can be drawn. The current review summarizes the results obtained in the field and reveals the perspectives for the development of new and more effective strategies for SLE treatment in combination with other immunomodulating drugs.

IL-1RN VNTR Polymorphism in Adult Dermatomyositis and Systemic Lupus Erythematosus.

Polymorphisms in the cytokine genes and their natural antagonists are thought to influence the predisposition to dermatomyositis (DM) and systemic lupus erythematosus (SLE). A variable number tandem repeat (VNTR) polymorphism of 86 bp in intron 2 of the interleukin-1 receptor antagonist (IL-1RN) gene leads to the existence of five different alleles which cause differences in the production of both IL-1RA (interleukin-1 receptor antagonist) and IL-1β. The aim of this case-control study was to investigate the association between the IL-1RN VNTR polymorphism and the susceptibility to DM and SLE in Bulgarian patients.

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

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.

Association of tumor necrosis factor α (TNF-α) and interleukin 10 (IL-10) gene polymorphisms in dermatomyositis patients: a pilot study.

TNF-α and IL-10 single nucleotide polymorphisms have been implicated in various autoimmune diseases but the results are still quite controversial. This case-control study aimed to investigate the association between six TNF-α and five IL-10 polymorphisms with dermatomyositis. The -857CC and +489GG genotypes showed a weak association with dermatomyositis when the analysis was carried out for the whole cohort but they appeared to be a significant risk factor for the development of dermatomyositis in women.