Unknown

Dataset Information

0

A functional variant of PTPN22 confers risk for Vogt-Koyanagi-Harada syndrome but not for ankylosing spondylitis.


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

altmetric image

Publications

A functional variant of PTPN22 confers risk for Vogt-Koyanagi-Harada syndrome but not for ankylosing spondylitis.

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]

Similar Datasets

| S-EPMC2690962 | biostudies-literature
| S-EPMC4734154 | biostudies-literature
| S-EPMC5430771 | biostudies-literature
2020-12-17 | GSE154024 | GEO
| S-EPMC2683028 | biostudies-literature
| S-EPMC3605404 | biostudies-literature
| S-EPMC4105881 | biostudies-literature
2021-05-19 | GSE166663 | GEO
| S-EPMC6925663 | biostudies-literature
| S-EPMC7947328 | biostudies-literature