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Copy number variations and gene polymorphisms of complement components in ocular Behcet's disease and

Dengfeng Xu1, Shengping Hou1, Jun Zhang1

  • 1The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, P. R. China.

Scientific Reports
|August 14, 2015
PubMed

Insights

Complement copy number variations (CNVs) in C3 and C5 are linked to Behcet's disease (BD) and Vogt-Koyanagi-Harada syndrome (VKH), influencing cytokine production and potentially contributing to uveitis pathogenesis.

Area of Science:

  • Immunology
  • Genetics
  • Ophthalmology

Background:

  • The complement system plays a crucial role in immune responses and is implicated in various immune-mediated diseases.
  • The specific involvement of complement component copy number variations (CNVs) and polymorphisms in Behcet's disease (BD) and Vogt-Koyanagi-Harada syndrome (VKH) remains largely uncharacterized.

Purpose of the Study:

  • To investigate the association between complement C3 and C5 CNVs and single nucleotide polymorphisms (SNPs) with the pathogenesis of BD and VKH.
  • To evaluate the impact of these genetic variations on complement component gene expression and cytokine production.

Main Methods:

  • Real-time PCR was employed to quantify C3 and C5 gene copy numbers and mRNA expression levels.
  • Genotyping of specific C3 (rs408290) and C5 (rs2269067) SNPs was performed.
  • Cytokine production (IL-17, IFN-γ, TNF-α, IL-10, IL-1β, MCP-1, IL-6, IL-8) by stimulated peripheral blood mononuclear cells (PBMCs) was assessed using ELISA.

Main Results:

  • Significantly higher frequencies of C3 CNVs (more than two copies) were observed in both BD and VKH patients.
  • C5 CNVs were specifically associated with BD.
  • Increased frequencies of the GG genotype for C3 rs408290 and C5 rs2269067 were found in BD patients, but no SNP associations were found for VKH.
  • Elevated mRNA expression of C3 and C5 was noted in individuals with high CNVs and the GG genotype.
  • High CNV and GG genotype cases of C3 showed increased production of IL-17 and IFN-γ, while C5 showed increased IL-17 but not IFN-γ.

Conclusions:

  • This study provides compelling evidence for the involvement of complement C3 and C5 genetic variations, including CNVs and specific polymorphisms, in the pathogenesis of BD and VKH.
  • These genetic factors appear to influence complement gene expression and modulate the production of key inflammatory cytokines like IL-17 and IFN-γ, contributing to the inflammatory processes in uveitis.

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