IRF5 多态性与日本人群 MPO-ANCA 阳性血管炎的关联。
Association of IRF5 polymorphism with MPO-ANCA-positive vasculitis in a Japanese population.
机构信息
1] Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan [2] School of Medicine, University of Tsukuba, Tsukuba, Japan.
出版信息
Genes Immun. 2013 Dec;14(8):527-9. doi: 10.1038/gene.2013.45. Epub 2013 Aug 29.
Interferon regulatory factor 5 (IRF5) and signal transducer and activator of transcription 4 (STAT4) are shared susceptibility genes for various autoimmune diseases. In this study, we investigated whether these genes also contribute to susceptibility to anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) in a Japanese population. A case-control study was carried out on IRF5 rs10954213 and STAT4 rs7574865 in 232 Japanese myeloperoxidase (MPO)-ANCA-positive AAV patients, including 177 microscopic polyangiitis and 710 healthy controls. IRF5 rs10954213G was significantly increased in MPO-ANCA-positive AAV (additive model, P=0.023, odds ratio=1.27, 95% confidence interval=1.03-1.57). The risk allele was previously shown to be associated with lower mRNA level of IRF5. On the other hand, significant association of STAT4 rs7574865T with AAV was not detected. These observations suggested that IRF5 may contribute to susceptibility to MPO-ANCA-positive AAV in a Japanese population.
干扰素调节因子 5（IRF5）和信号转导子和转录激活因子 4（STAT4）是各种自身免疫性疾病的共同易感基因。在这项研究中，我们研究了这些基因是否也与日本人群抗中性粒细胞胞质抗体（ANCA）相关性血管炎（AAV）的易感性有关。对 232 例日本髓过氧化物酶（MPO）-ANCA 阳性 AAV 患者（包括 177 例显微镜下多血管炎和 710 例健康对照）进行了干扰素调节因子 5 rs10954213 和信号转导子和转录激活因子 4 rs7574865 的病例对照研究。IRF5 rs10954213G 在 MPO-ANCA 阳性 AAV 中显著增加（加性模型，P=0.023，比值比=1.27，95%置信区间=1.03-1.57）。该风险等位基因先前与 IRF5 的 mRNA 水平较低有关。另一方面，未检测到 STAT4 rs7574865T 与 AAV 的显著关联。这些观察结果表明，IRF5 可能在日本人群中导致 MPO-ANCA 阳性 AAV 的易感性。
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