Copy number variations and gene polymorphisms of Complement components in ocular Behcet's disease and Vogt-Koyanagi-Harada syndrome

Dengfeng Xu, Shengping Hou, Jun Zhang, Yanni Jiang, Aize Kijlstra, Peizeng Yang*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Complement is involved in many immune-mediated diseases. However, the association of its copy number variations (CNVs) and polymorphisms with Behcet's disease (BD) and Vogt-Koyanagi-Harada syndrome (VKH) is unknown. We examined copy number and mRNA expression by real-time PCR. Cytokine production by stimulated peripheral blood mononuclear cells (PBMCs) in genotyped individuals was measured by ELISA. The frequencies of having more than two copies of C3 were significantly increased in BD and VKH, whereas CNV of C5 was only associated with BD. Increased frequencies of the GG genotype of C3 rs408290 and C5 rs2269067 were found in BD. No association was observed between C3 and C5 SNPs and VKH. mRNA expression in the high CNV group and GG cases of C3 and C5 was significantly higher compared to other genotypes. Increased interleukin-17 and IFN-gamma was observed in the high CNV group and GG genotype cases of C3. Interleukin-17 but not IFN-gamma was increased in the high CNV group and GG genotype cases of C5. No effect of C3 or C5 genetic variants was seen on the production of TNF-alpha, IL-10, IL-1 beta, MCP-1, IL-6 and IL-8. Our study thus provides further evidence for a role of complement in the pathogenesis of uveitis.
Original languageEnglish
Article number12989
JournalScientific Reports
Volume5
DOIs
Publication statusPublished - 13 Aug 2015

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