幼年特发性关节炎的致病基因与通路分析

Causal genes and pathways analysis of juvenile idiopathic arthritis

目的探索幼年特发性关节炎（JIA）的发病机理，并找到可能在JIA中起重要作用的分子靶标。方法通过分析美国国家生物信息技术中心（NCBI）的公共基因芯片数据库（GEO）中关于JIA研究的表达谱芯片数据，找到JIA的差异表达基因，并通过GLAD4U和ToppGene数据库对差异表达基因进行优化和补充，找到JIA的致病基因，利用DAVID在线工具对致病基因进行功能富集分析，探索JIA发病和发展过程中发生的主要生物过程及其重要的基因。结果得到了JIA的致病基因列表及这些基因所富集的功能，找到了可能在JIA中发挥重要作用的生化通路，如细胞因子与细胞因子受体相互作用（Cytokine-cytokine receptor interaction）、Jak—STAT信号通路（Jak-STAT signaling pathway）等。结论通过生物信息学分析的方法了解JIA的发病机理，找到可能致病的候选基因，为实验研究和临床治疗节约时间和成本。

Objective To explore the pathogenesis of juvenile idiopathic arthritis （JIA） and its potential molecular targets. Methods Gene microarray data about JIA was downloaded from Gene Expression Omnibus （GEO） in NCBI. Different expressed genes were identified through bioconductor packages in R programing. The causal genes from the different expressed genes were optimized and replenished by GLAD4U and ToppGene. Functional annotation information of causal genes was carried out by DAVID. Results List of causal genes was obtained as well as their enriched function. Some potential pathways such as Cytokine-cytokine receptor interaction, Jak-STAT signaling pathway, which may be important in the progression of JIA were screened. Conclusions The pathogenesis of JIA, as well as its potential causal genes, can be captured through bioinformatics methods, so it may be used as time and cost saving method in experimental study and clinical application.