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ABSTRACT: Background
Protein tyrosine phosphatase non-receptor 22 (PTPN22) is a key negative regulator of T lymphocytes and has emerged as an important candidate susceptibility factor for a number of immune-related diseases. This study aimed to examine the predisposition of PTPN22 SNPs to Vogt-Koyanagi-Harada (VKH) syndrome and acute anterior uveitis (AAU) associated with ankylosing spondylitis (AS).Methods
A total of 1005 VKH syndrome, 302 AAU+AS+ patients and 2010 normal controls among the Chinese Han population were enrolled in the study. Genotyping, PTPN22 expression, cell proliferation, cytokine production and cell activation were examined by PCR-RFLP, Real-time PCR, CCK8, ELISA and Flow cytometry.Results
The results showed significantly increased frequencies of the rs2488457 CC genotype and C allele but a decreased frequency of the GG genotype in VKH syndrome patients (PBonferroni correction (Pc)?=?3.47×10(-7), OR?=?1.54; Pc?=?3.83×10(-8), OR?=?1.40; Pc?=?6.35×10(-4), OR?=?0.62; respectively). No significant association of the tested SNPs with AAU+AS+ patients was observed. Functional studies showed a decreased PTPN22 expression, impaired cell proliferation and lower production of IL-10 in rs2488457 CC cases compared to GG cases (Pc?=?0.009, Pc?=?0.015 and Pc?=?0.048 respectively). No significant association was observed concerning T cell activation and rs2488457 genotype.Conclusions
The study showed that a functional variant of PTPN22 confers risk for VKH syndrome but not for AAU+AS+ in a Chinese Han population, which may be due to a modulation of the PTPN22 expression, PBMC proliferation and IL-10 production.
SUBMITTER: Zhang Q
PROVIDER: S-EPMC4016172 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Zhang Qi Q Qi Jian J Hou Shengping S Du Liping L Yu Hongsong H Cao Qingfeng Q Zhou Yan Y Liao Dan D Kijlstra Aize A Yang Peizeng P
PloS one 20140509 5
<h4>Background</h4>Protein tyrosine phosphatase non-receptor 22 (PTPN22) is a key negative regulator of T lymphocytes and has emerged as an important candidate susceptibility factor for a number of immune-related diseases. This study aimed to examine the predisposition of PTPN22 SNPs to Vogt-Koyanagi-Harada (VKH) syndrome and acute anterior uveitis (AAU) associated with ankylosing spondylitis (AS).<h4>Methods</h4>A total of 1005 VKH syndrome, 302 AAU+AS+ patients and 2010 normal controls among t ...[more]