Juvenile idiopathic arthritis (JIA) is highly heterogeneous in terms of etiology and clinical presentation with ambiguity in JIA classification. The advance of high-throughput omics technologies in recent years has gained us significant knowledge about the molecular mechanisms of JIA. Besides a minor proportion of JIA cases as monogenic, most JIA cases are polygenic disease caused by autoimmune mechanisms. A number of HLA alleles (including both HLA class I and class II genes), and 23 non-HLA genetic loci have been identified of association with different JIA subtypes. Omics technologies, i.e., transcriptome profiling and epigenomic analysis, contributed significant knowledge on the molecular mechanisms of JIA in addition to the genetic approach. New molecular knowledge on different JIA subtypes enables us to reconsider the JIA classification, but also highlights novel therapeutic targets to develop a cure for the devastating JIA.

中文翻译：

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青少年特发性关节炎的多组学体系结构

幼年特发性关节炎（JIA）在病因和临床表现方面高度异质，在JIA分类中含糊不清。近年来，高通量组学技术的发展使我们对JIA的分子机理有了深入的了解。除了少数JIA病例是单基因的，大多数JIA病例都是由自身免疫机制引起的多基因疾病。许多HLA等位基因（包括I类和II类HLA基因）和23种非HLA已经确定了与不同JIA亚​​型相关的遗传基因座。Omics技术，即转录组分析和表观基因组分析，除了遗传方法外，还为JIA的分子机制提供了重要知识。关于不同的JIA亚型的新分子知识使我们能够重新考虑JIA的分类，但同时也强调了新的治疗靶标，以开发出针对毁灭性JIA的疗法。