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首页> 外文期刊>Rheumatology >Interferon regulatory factor 5 gene polymorphism confers risk to several rheumatic diseases and correlates with expression of alternative thymic transcripts
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Interferon regulatory factor 5 gene polymorphism confers risk to several rheumatic diseases and correlates with expression of alternative thymic transcripts

机译：干扰素调节因子5基因多态性使多种风湿性疾病具有风险，并与其他胸腺转录本的表达相关

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Objectives: Polymorphisms in genes related to the IFN pathway were investigated for susceptibility to rheumatic diseases and correlation with gene expression in thymus. Methods: Forty-five polymorphisms were genotyped in Norwegian patients with RA (n = 518), JIA (n = 440), SLE (n = 154) and healthy controls (n = 756). Forty-two thymic samples were used for gene expression analysis. Six hundred and fifty SLE patients and 737 healthy controls from Spain were available for replication. Results: We found a novel association between interferon regulatory factor 5 (IRF5), rs2004640 and JIA, in particular with the polyarthritis RF-negative patients [odds ratio (OR) = 1.60; 95% confidence interval (CI) 1.17, 2.20; P = 0.003]. Also, we confirmed the associations between rs2004640 and SLE (OR = 1.95; 95% CI 1.50, 2.53; P = 3.75 × 10 -7), which was further strengthened in a meta-analysis (OR = 1.44; 95% CI 1.36, 1.52; P = 2.11 × 10 -37). Suggestive evidence of association between rs2004640 and RA was found in the Norwegian discovery cohort (OR = 1.19; 95% CI 1.02, 1.40; P = 0.029) and strengthened in a meta-analysis (OR = 1.11; 95% CI 1.05, 1.18; P = 0.00028). Expression levels of exon 1B IRF5 transcripts were dependent on the presence of the rs2004640*T risk allele in thymic tissue, while exon 1A transcript levels correlated with IRF5 promoter CGGGG-indel variants. Conclusion: The IFN pathway gene, IRF5, is a common susceptibility factor for several rheumatic and autoimmune diseases, and risk variants are correlated with expression of alternative IRF5 transcripts in thymus implying a regulatory role.
机译：目的：研究与IFN途径相关的基因多态性对风湿性疾病的敏感性以及与胸腺中基因表达的相关性。方法：对挪威RA（n = 518），JIA（n = 440），SLE（n = 154）和健康对照（n = 756）的患者进行了45种基因型分型。 42个胸腺样品用于基因表达分析。来自西班牙的650名SLE患者和737名健康对照可以复制。结果：我们发现干扰素调节因子5（IRF5），rs2004640和JIA之间存在新的关联，特别是与多发性RF阴性患者[比值比（OR）= 1.60; 95％置信区间（CI）1.17，2.20; P = 0.003]。此外，我们确认了rs2004640与SLE之间的关联（OR = 1.95; 95％CI 1.50，2.53; P = 3.75×10 -7），在荟萃分析中进一步加强了关联（OR = 1.44; 95％CI 1.36， 1.52; P = 2.11×10 -37）。 rs2004640与RA之间存在关联的暗示性证据在挪威发现队列中发现（OR = 1.19; 95％CI 1.02，1.40; P = 0.029），并在荟萃分析中得到了加强（OR = 1.11; 95％CI 1.05，1.18; P = 0.00028）。外显子1B IRF5转录本的表达水平取决于胸腺组织中rs2004640 * T风险等位基因的存在，而外显子1A转录本水平与IRF5启动子CGGGG-indel变体相关。结论：IFN通路基因IRF5是几种风湿性和自身免疫性疾病的常见易感因素，其风险变异与在胸腺中替代IRF5转录本的表达相关，这暗示着其具有调节作用。

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