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Peizeng Yang, Shengping Hou, Aize Kijlstra; Copy Number Variations in IL17F and IL23A Genes Associated with Susceptibility to Uveitis Associated with Systemic Involvement but not with Uveitis alone in Chinese Han Population. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1874.
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© ARVO (1962-2015); The Authors (2016-present)
Uveitis is one of the major causes of blindness. Its etiology and pathogenesis are not well understood. Recent studies showed excessive activation of Th17 cell and enhanced expression of related genes may be involved in the pathogenesis of uveitis. To investigate the relationship of IL17A, IL17F, IL23A, IL23R copy number variants (CNVs) with a variety of uveitis entities and the influence of IL17F CNV on IL17F production, PBMC proliferation and inflammatory cytokines production.
CNVs of IL17A, IL17F, IL23A, IL23R were detected by Real-time PCR for 1159 VKH patients, 1036 BD patients, 264 AS+AAU+ patients, 286 AAU+AS- patients, 281 Fuchs’ patients and 2050 controls. Cell proliferation was measured by CCK-8. Cytokine production was detected by ELISA.
We identified two risk high copies number of IL17F, IL23A for VKH syndrome, BD and AS+AAU+ (IL17F: Pcorr=1.70×10-11, Pcorr=2.50×10-6, Pcorr=4.01×10-5; IL23A: Pcorr=2.68×10-5, Pcorr=1.72×10-9, Pcorr=1.35×10-17, respectively). Additionally, increased frequencies of more than two copies of IL17A and IL23R were also found in AS+AAU+ patients (Pcorr=6.36×10-3, Pcorr=2.12×10-4, respectively). However, the tested CNVs were not associated with Fuchs’ syndrome and AAU+AS-. High CNV of IL17F enhanced the production of IL17F (Pcorr=1.03×10-6). Importantly, we found the group of high copies IL17F had enhanced PBMCs proliferation (Pc=0.017). No effect was observed concerning the production of cytokines including IL-1β, IL-6, IL-8, MCP-1, TNF-α by stimulated PBMCs among the individuals with different copies of IL17F.
We identified two risk high copy number of IL17F and IL23A for uveitis associated with systemic involvement but not for uveitis alone and enhanced IL17F production and PBMCs proliferation in the individuals with high CNV of IL17F.
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