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首页> 外文期刊>Clinical & developmental immunology. >Genetic Predictors of Poor Prognosis in Portuguese Patients with Juvenile Idiopathic Arthritis: Data from Reuma.pt
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Genetic Predictors of Poor Prognosis in Portuguese Patients with Juvenile Idiopathic Arthritis: Data from Reuma.pt

机译:葡萄牙特发性关节炎患者预后不良的遗传预测因素:Reuma.pt的数据

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摘要

Introduction. This study aimed to assess the genetic determinants of poor outcome in Portuguese patients with juvenile idiopathic arthritis (JIA). Methods. Our study was conducted in Reuma.pt, the Rheumatic Diseases Portuguese Register, which includes patients with JIA. We collected prospectively patient and disease characteristics and a blood sample for DNA analysis. Poor prognosis was denned as CHAQ/HAQ >0.75 at the last visit and/or the treatment with biological therapy. A selected panel of single nucleotide polymorphisms (SNPs) associated with susceptibility was studied to verify if there was association with poor prognosis. Results. Of the 812 patients with JIA registered in Reuma.pt, 267 had a blood sample and registered information used to define "poor prognosis." In univariate analysis, we found significant associations with poor prognosis for allele A of TNFA1P3/20 rs6920220, allele G of TRAF1/C5 rs3761847, and allele G of PTPN2 rs7234029. In multivariate models, the associations with TRAF1/C5 (1.96 [1.17-3.3]) remained significant at the 5% level, while TNFA1P3/20 and PTPN2 were no longer significant. Nevertheless, none of associations found was significant after the Bonferroni correction was applied. Conclusion. Our study does not confirm the association between a panel of selected SNP and poor prognosis in Portuguese patients with JIA.
机译:介绍。这项研究旨在评估葡萄牙特发性幼年关节炎(JIA)患者预后不良的遗传决定因素。方法。我们的研究在葡萄牙风湿性疾病登记册Reuma.pt中进行,其中包括JIA患者。我们前瞻性地收集了患者和疾病的特征以及用于DNA分析的血液样本。在最后一次就诊和/或生物疗法治疗后,预后不良的患者被定为CHAQ / HAQ> 0.75。研究了一组与易感性相关的单核苷酸多态性(SNP),以验证是否与不良预后相关。结果。在Reuma.pt注册的812例JIA患者中,有267例具有血液样本和注册信息,用于定义“预后不良”。在单变量分析中,我们发现TNFA1P3 / 20 rs6920220的等位基因A,TRAF1 / C5 rs3761847的等位基因G和PTPN2 rs7234029的等位基因G与不良预后显着相关。在多变量模型中,与TRAF1 / C5(1.96 [1.17-3.3])的关联在5%的水平上仍然显着,而TNFA1P3 / 20和PTPN2不再显着。但是,在应用Bonferroni校正后,发现的关联均不显着。结论。我们的研究未证实葡萄牙JIA患者中一组选定的SNP与不良预后之间的关联。

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