【摘要】 目的 运用生物信息学方法筛选子宫内膜异位症的差异表达基因，系统探讨子宫内膜异位症的病因病理机制。方法 通过GEO数据库搜索子宫内膜异位症基因芯片，联合Perl语言及R语言分析异位子宫内膜组织与正常组织的差异表达基因；利用STRING数据库及Cytoscape软件绘制PPI网络图；通过g:profiler数据库对关键差异基因进行GO和KEGG富集分析。结果 共纳入2套子宫内膜异位症基因芯片，筛选出共同差异表达基因308个（178个上调，130个下调），剔除degree值为1和2的基因后得到关键差异表达基因170个（上调91个，下调79个），其中差异最显著的基因为：TAGLN（上调）、EpCAM（下调）；PPI网络图中得到degree值最大的差异基因为：CDK1。差异表达基因GO生物过程富集分析得出细胞周期改变、细胞黏附、增殖异常等与EMs发生发展密切相关，KEGG通路富集分析发现包括ECM受体相互作用通路、局灶性黏着斑、PI3K-Akt信号通路等在内的8条通路参与其中。结论 子宫内膜异位症的病因病理机制可能与TAGLN、EpCAM、CDK1基因表达异常及其涉及的表观遗传修饰改变、上皮-间质转化、干细胞失调及细胞周期异常相关，为进一步探讨子宫内膜异位症发病的分子机制及诊疗手段提供新思路。更多还原

【Abstract】 Objective To screen the differentially expressed genes of endometriosis(EMs) by bioinformatics, and to explore the pathogenesis of EMs. Methods The gene chip of EMs was searched by GEO database, and the differentially expressed genes between endometrium and normal tissue were analyzed by Perl and R language. PPI network was drawn by string database and Cytoscape software. The key differentially expressed genes were enriched by GO and KEGG by g:profiler database. Results A total of 308 genes(178 up-regulated and 130 down regulated) were screened out from two sets of EMs gene chips. 170 key genes(91 up-regulated and 79 down regulated) were obtained after the genes with degree 1 and 2 were eliminated. The most significant genes were TAGLN(up-regulated) and EpCAM(down regulated). The most significant genes with degree value were obtained from PPI network map: CDK1. The enrichment analysis of the differential expression gene go showed that cell cycle change, cell adhesion and abnormal proliferation were closely related to the occurrence and development of EMs. The enrichment analysis of KEGG pathway showed that eight pathways including ECM receptor interaction pathway, focal adhesion spot, PI3K-Akt signal pathway were involved in this pathway. Conclusion The pathogenesis of EMs may be related to the abnormal expression of TAGLN, EpCAM and CDK1 genes and the changes of epigenetic modification,epithelial mesenchymal transition(EMT), stem cell dysfunction and cell cycle abnormality, which may provide a new way to further explore the molecular mechanism and diagnosis and treatment of EMs.更多还原