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Copy number variations of complement component C4 are associated with Behçet's disease but not with ankylosing

Shengping Hou1, Jian Qi, Dan Liao

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

Arthritis and Rheumatism
|August 7, 2013
PubMed

Insights

High copy numbers of complement component C4A increase Behçet's disease risk by altering C4A expression and boosting interleukin-6. This finding clarifies a key factor in Behçet's disease pathogenesis.

Area of Science:

  • Immunogenetics
  • Inflammatory Diseases
  • Complement System

Background:

  • Complement component C4 (C4) copy number variations are linked to inflammatory conditions.
  • The role of C4 copy number variations in Behçet's disease (BD) pathogenesis remains unclear.

Purpose of the Study:

  • To investigate the association between C4 copy number variations and Behçet's disease.
  • To explore the impact of C4 copy number variations on C4 expression and cytokine production in BD.

Main Methods:

  • Real-time PCR was used to detect C4A and C4B copy number variations in 905 BD patients and controls.
  • ELISA and real-time PCR assessed gene expression.
  • Flow cytometry analyzed T cell activation, and ELISA measured cytokine levels, including IL-6.

Main Results:

  • Significantly increased C4A copy number (>2 copies) was found in BD patients (P = 1.65 × 10(-7)).
  • High C4A copy number correlated with increased C4A expression and elevated IL-6 production.
  • C4A copy number variation was identified as an independent risk factor for BD, distinct from HLA-B51.

Conclusions:

  • A high copy number of C4A is a risk factor for Behçet's disease.
  • This risk is mediated through modulation of C4A expression and enhanced IL-6 production.
  • Findings contribute to understanding the immunogenetic basis of Behçet's disease.
Abstract

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