原发性干燥综合征致病基因的生物信息学分析

Bioinformatic analysis of differentially expressed genes of primary Sj gren's syndrome

目的利用生物信息学方法筛选原发性干燥综合征可能的致病基因,以探索可能的发病机制。方法从GEO数据库下载2个基因表达数据集,整合数据集后获取差异表达基因,并对其进行富集分析、蛋白-蛋白相互作用网络(protein-protein interaction,PPI)构建及hub基因筛选。结果共鉴定出29个差异基因(27个上调基因和2个下调基因)。GO富集结果显示这些基因参与淋巴细胞及单核细胞的分化增殖、T细胞活化、细胞-细胞间黏附的正向调节等生物学过程和趋化因子相关的分子功能。KEGG分析主要涉及趋化因子信号通路、造血细胞调控信号通路、B细胞受体信号转导、病毒蛋白与细胞因子及受体相互作用通路。从PPI网络中筛选出5个hub基因MX1、SELL、IFIT1、IFI44L、SAMD9L。结论利用生物信息学分析,确定了MX1、SELL、IFIT1、IFI44L、SAMD9L基因,可能参与了原发性干燥综合征发病。

Objective To screen for differentially expressed genes(DEGs)associated with primary Sj gren's syndrome(pSS)by bioinformatics and to explore its underlying pathogenesis.Methods Gene expression profiles were downloaded from the GEO database,and DEGs were obtained by integrating the datasets.Furthermore,we explored DEGs’potential function by GO and KEGG enrichment analysis.Finally,we screened the hub genes of pSS by PPI network analysis.Results A total of 29 DEGs(27 up-regulated and 2 down-regulated)were identified,and the GO enrichment results showed that these genes are involved in lymphocyte and monocyte differentiation and proliferation,T cell activation,positive regulation of cell-cell adhesion,and chemokine-related molecular functions.KEGG analysis mainly involves chemokine signaling pathways,hematopoietic cell regulatory signaling pathways,B cell receptor signaling,viral protein-cytokine and receptor interaction pathways.Five hub genes,including MX1,SELL,IFIT1,IFI44L and SAMD9L were screened from the PPI network.Conclusion The MX1,SELL,IFIT1,IFI44L,and SAMD9L genes were identified and may be involved in pSS pathogenesis.