子宫内膜异位症发病相关基因及通路的生物信息学分析与筛选  

Identification of key genes and pathways associated with endometriosis development based on bioinformatics

作　　者：路畅[1] 谢成茂 张齐 王晓丹 刘朝晖 Lu Chang;Xie Chengmao;Zhang Qi;Wang Xiaodan;Liu Zhaohui(Department of Gynecology,Beijing Obstetrics and Gynecology Hospital,Capital Medical University.Beijing Maternal and Child Health Care Hospital,Beijing 100026,China)

机构地区：[1]首都医科大学附属北京妇产医院/北京妇幼保健院妇科,北京100026

出　　处：《中国医学前沿杂志（电子版）》2022年第2期45-51,共7页Chinese Journal of the Frontiers of Medical Science(Electronic Version)

基　　金：首都医科大学附属北京妇产医院院内课题(FCYY201923)。

摘　　要：目的应用生物信息学方法基于基因表达(gene expression omnibus,GEO)数据库芯片数据进行数据挖掘,探寻子宫内膜异位症发病的关键基因及信号通路。方法从GEO数据库中查询并下载子宫内膜异位症(物种为人类)基因表达谱芯片数据,使用R软件进行差异基因的统计学分析,并对筛选出的差异基因进行验证、基因本体论(gene ontology,GO)及京都基因与基因组百科全书(Kyoto encyclopedia of genes and genomes,KEGG)富集分析,然后进行蛋白相互作用网络分析;最后应用Cytoscape软件进行信号通路可视化。结果从GEO数据库中获得了GSE7305芯片数据集,共筛选出1537个差异基因,其中表达上调的基因为870个,表达下调为667个。GO富集分析显示差异基因主要富集于细胞质膜、细胞黏附、蛋白质同源二聚化活性等方面;KEGG富集分析显示差异基因主要富集于PI3K-Akt信号通路、补体信号通路以及细胞黏附等12条信号通路。收集2019年1月至2020年12月首都医科大学附属北京妇产医院住院手术的子宫内膜异位症患者40例,在位子宫内膜组织在手术切除后立即置于组织液中固定,石蜡包埋,并应用免疫组化验证C7的表达情况,结果与芯片一致。结论子宫内膜异位症的发病是众多基因及信号通路相互作用的结果,补体C7可能依赖补体信号通路促进子宫内膜异位症的发生发展。Objective To investigate the potential genes and pathways associated with endometriosis through microarray expression profiling data analysis and bioinformatics approaches.Method Query and download the gene expression profile microarray data of endometriosis(species is human)from Gene Expression Omnibus(GEO)database,and the biological processes,signaling pathways and network of these genes were statistically analysis using“R”software,and the differential genes were verified by immunohistochemistry.Result GSE7305 chip data were obtained from GEO database.We screened 1537 differential genes,of which 870 were up-regulated and 667 were down regulated.Go enrichment analysis showed that the differential genes were mainly concentrated in cell plasma membrane,cell adhesion,protein homodimerization activity and so on;KEGG enrichment analysis showed that the differential genes were mainly enriched in 12 signal pathways,such as PI3K Akt signal pathway,complement signal pathway and cell adhesion.Conclusion The pathogenesis of endometriosis is the result of the interaction of many genes and signal pathways.Complement C7 may rely on complement signal pathway to promote the occurrence and development of endometriosis.

关 键 词：子宫内膜异位症 盆腔疼痛 GEO数据库 生物信息学 

分 类 号：Q811.4[生物学—生物工程] R711.71[医药卫生—妇产科学]