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Association of PTPN22 polymorphsims and ankylosing spondylitis susceptibility.

ABSTRACT: As a susceptibility gene for AS, the polymorphsims of PTPN22 associated with disease susceptibility.We selected two SNPs of rs1217406 and rs1217414 within PTPN22 with Haploview software and investigated the relationship between the SNPs of PTPN22 gene and AS susceptibility. 120 AS patients and 100 healthy people were enrolled from Qilu Hospital of Shandong University. And we genotyped the SNPs of PTPN22 with PCR-RFLP method.The results showed that C allele (rs1217406) and T allele (rs1217414) both were risk factors for AS (OR: 3.12, 2.13). The persons with A-T, C-C or C-T haplotypes were more likely to suffer AS (OR: 3.17, 3.66, 4.011).Due to the close relationship of PTPN22 and AS, the study may be helpful for the early diagnosis and differential diagnosis.

SUBMITTER: Meng Q

PROVIDER: S-EPMC4348882 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Association of PTPN22 polymorphsims and ankylosing spondylitis susceptibility.

Meng Qingxi Q Zhang Xiaojun X Liu Xin X Wang Weiguo W Yu Peng P Shan Qunqun Q Mao Zhaohu Z Zhao Tingbao T

International journal of clinical and experimental pathology 20150101 1

<h4>Background</h4>As a susceptibility gene for AS, the polymorphsims of PTPN22 associated with disease susceptibility.<h4>Methods</h4>We selected two SNPs of rs1217406 and rs1217414 within PTPN22 with Haploview software and investigated the relationship between the SNPs of PTPN22 gene and AS susceptibility. 120 AS patients and 100 healthy people were enrolled from Qilu Hospital of Shandong University. And we genotyped the SNPs of PTPN22 with PCR-RFLP method.<h4>Results</h4>The results showed th ...[more]

PMID: 25755798

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ETS1 variants confer susceptibility to ankylosing spondylitis in Han Chinese.

Project description:INTRODUCTION: ETS1 is a negative regulator of the Th17 differentiation gene and plays a central role in the pathogenesis of autoimmune diseases. We aimed to investigate whether polymorphisms in ETS1 confer susceptibility to ankylosing spondylitis (AS) in Han Chinese. METHODS: We selected seven single nucleotide polymorphisms (SNPs) within ETS1 based on HapMap data and previous genome-wide association study. Genotyping involved the TaqMan method in 1,015 patients with AS and 1,132 healthy controls from Shandong Province, and 352 AS patients and 400 healthy controls from Ningxia, a northwest region in China. Gene expression was determined by real-time PCR. RESULTS: The SNP rs1128334 was strongly associated with AS (odds ratio 1.204, 95% confidence interval 1.06-1.37; P?=?0.005). This association was confiexrmed in the Ningxia population (P?=?0.015). Carriers of the haplotype TAT for rs12574073, rs1128334 and rs4937333 were associated with increased risk of AS and haplotype CGC with reduced risk as compared to controls. In addition, ETS1 expression was lower in AS patients than controls. The risk allele A of rs1128334 and haplotype A-T of rs1128334 and rs4937333 were associated with decreased expression of ETS1. CONCLUSIONS: Common variants in ETS1 may contribute to AS susceptibility in Han Chinese people.

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

Project description:BackgroundProtein 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).MethodsA 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.ResultsThe 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.ConclusionsThe 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.

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