Department of Life Science, Dongguk University-Seoul, Seoul 04620, Korea.
Department of Computer Science and Engineering, Dongguk University-Seoul, Seoul 04620, Korea.
Genes (Basel). 2019 Oct 30;10(11):864. doi: 10.3390/genes10110864.
Polymyositis (PM) and dermatomyositis (DM) are both classified as idiopathic inflammatory myopathies. They share a few common characteristics such as inflammation and muscle weakness. Previous studies have indicated that these diseases present aspects of an auto-immune disorder; however, their exact pathogenesis is still unclear. In this study, three gene expression datasets (PM: 7, DM: 50, Control: 13) available in public databases were used to conduct meta-analysis. We then conducted expression quantitative trait loci analysis to detect the variant sites that may contribute to the pathogenesis of PM and DM. Six-hundred differentially expressed genes were identified in the meta-analysis (false discovery rate (FDR) < 0.01), among which 317 genes were up-regulated and 283 were down-regulated in the disease group compared with those in the healthy control group. The up-regulated genes were significantly enriched in interferon-signaling pathways in protein secretion, and/or in unfolded-protein response. We detected 10 single nucleotide polymorphisms (SNPs) which could potentially play key roles in driving the PM and DM. Along with previously reported genes, we identified 4 novel genes and 10 SNP-variant regions which could be used as candidates for potential drug targets or biomarkers for PM and DM.
多发性肌炎（PM）和皮肌炎（DM）均被归类为特发性炎症性肌病。它们具有一些共同特征，如炎症和肌肉无力。先前的研究表明，这些疾病表现出自身免疫紊乱的某些方面；然而，其确切的发病机制仍不清楚。在这项研究中，使用了三个可从公共数据库获得的基因表达数据集（PM：7、DM：50、对照：13）进行荟萃分析。然后，我们进行了表达数量性状基因座分析，以检测可能导致 PM 和 DM 发病机制的变异位点。荟萃分析中鉴定出 600 个差异表达基因（错误发现率（FDR）<0.01），与健康对照组相比，疾病组中有 317 个基因上调，283 个基因下调。上调的基因在蛋白质分泌和/或未折叠蛋白反应的干扰素信号通路中显著富集。我们检测到 10 个单核苷酸多态性（SNP），它们可能在驱动 PM 和 DM 中发挥关键作用。结合以前报道的基因，我们确定了 4 个新基因和 10 个 SNP 变异区域，可作为 PM 和 DM 的潜在药物靶点或生物标志物的候选物。
