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Complement C5 Gene Confers Risk for Acute Anterior Uveitis

Dengfeng Xu1, Shengping Hou1, Yanni Jiang1

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

Investigative Ophthalmology & Visual Science
|August 1, 2015
PubMed

Insights

The C5 rs2269067 GG genotype is linked to a higher risk of acute anterior uveitis (AAU). This genetic variation is associated with increased C5 levels and elevated interleukin-17 production.

Area of Science:

  • Immunogenetics
  • Ophthalmology
  • Rheumatology

Background:

  • Polymorphisms in complement components C3 and C5 are implicated in various immune-mediated diseases.
  • The specific association between C3 and C5 single nucleotide polymorphisms (SNPs) and acute anterior uveitis (AAU) remains unexplored.

Purpose of the Study:

  • To investigate the association between C3 and C5 gene polymorphisms and the risk of developing AAU.
  • To explore the relationship between specific C5 genotypes and C5 serum concentrations, as well as interleukin-17 (IL-17) production.

Main Methods:

  • Genotyping of six C3 SNPs and four C5 SNPs was conducted in 395 AAU patients with ankylosing spondylitis (AS), 397 AAU patients without AS, and 597 healthy controls using PCR-RFLP and TaqMan SNP assays.
  • Messenger RNA (mRNA) expression levels were quantified via real-time PCR.
  • Cytokine production and total C5 serum concentrations were measured using ELISA.

Main Results:

  • The GG genotype of the C5 rs2269067 SNP showed a significantly increased frequency in AAU patients (with and without AS) compared to healthy controls.
  • Individuals with the rs2269067 GG genotype exhibited higher C5 mRNA and serum concentrations.
  • An elevated production of interleukin-17 was observed in individuals with the rs2269067 GG genotype.

Conclusions:

  • The C5 rs2269067 GG genotype represents a risk factor for AAU in the studied Chinese population.
  • This genotype is associated with elevated C5 serum levels and increased IL-17 production, suggesting a potential mechanism for AAU development.
Abstract

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