Chen Shengnan, Chai Xiaoshan, Wu Xianqing
Department of Obstetrics and Gynecology, The Second Xiangya Hospital of Central South University, Changsha, 410011, China.
BMC Genom Data. 2022 Mar 18;23(1):20. doi: 10.1186/s12863-022-01036-y.
This study explored the key genes related to immune cell infiltration in endometriosis.
The Gene Expression Omnibus (GEO) datasets (GSE7305, GSE7307, and GSE11691), containing a total of 37 endometriosis and 42 normal tissues, were retrieved and analyzed to determine the differentially expressed genes (DEGs). Gene ontology (GO) annotations and Kyoto Encyclopedia of Genes (KEGG) analysis were performed to identify the pathways that were significantly enriched. The xCell software was used to analyze immune cell infiltration and correlation analyses were performed to uncover the relationship between key genes and immune cells. The analysis identified 1031 DEGs (581 upregulated and 450 downregulated DEGs), while GO analysis revealed altered extracellular matrix organization, collagen-containing extracellular matrix, and glycosaminoglycan binding and KEGG enrichment showed genes related to metabolic pathways, pathways in cancer, phosphatidylinositol 3-kinase-protein kinase B (PI3K-Akt) signaling, proteoglycans in cancer, and the mitogen-activated protein kinase (MAPK) signaling pathway. Furthermore, the protein-protein interaction network revealed 10 hub genes, i.e., IL6, FN1, CDH1, CXCL8, IGF1, CDK1, PTPRC, CCNB1, MKI67, and ESR1. The xCell analysis identified immune cells with significant changes in all three datasets, including CD4 and CD8 T cells, CD8 Tem, eosinophils, monocytes, Th1 cells, memory B-cells, activated dendritic cells (aDCs), and plasmacytoid dendritic cells (pDCs). These 10 hub genes were significantly associated with at least three types of immune cells.
Aberrant gene expression was related to abnormal infiltration of different immune cells in endometriosis and was associated with endometriosis development by affecting the tissue microenvironment and growth of ectopic endometrial cells.
本研究探索了与子宫内膜异位症中免疫细胞浸润相关的关键基因。
检索并分析了基因表达综合数据库（GEO）数据集（GSE7305、GSE7307和GSE11691），这些数据集共包含37个子宫内膜异位症组织和42个正常组织，以确定差异表达基因（DEG）。进行了基因本体（GO）注释和京都基因与基因组百科全书（KEGG）分析，以识别显著富集的通路。使用xCell软件分析免疫细胞浸润，并进行相关性分析以揭示关键基因与免疫细胞之间的关系。分析确定了1031个DEG（581个上调DEG和450个下调DEG），而GO分析显示细胞外基质组织、含胶原细胞外基质和糖胺聚糖结合发生改变，KEGG富集显示与代谢途径、癌症途径、磷脂酰肌醇3激酶-蛋白激酶B（PI3K-Akt）信号传导、癌症中的蛋白聚糖以及丝裂原活化蛋白激酶（MAPK）信号传导途径相关的基因。此外，蛋白质-蛋白质相互作用网络揭示了10个枢纽基因，即IL6、FN1、CDH1、CXCL8、IGF1、CDK1、PTPRC、CCNB1、MKI67和ESR1。xCell分析确定了在所有三个数据集中均有显著变化的免疫细胞，包括CD4和CD8 T细胞、CD8 Tem、嗜酸性粒细胞、单核细胞、Th1细胞、记忆B细胞、活化树突状细胞（aDC）和浆细胞样树突状细胞（pDC）。这10个枢纽基因与至少三种类型的免疫细胞显著相关。
基因表达异常与子宫内膜异位症中不同免疫细胞的异常浸润有关，并通过影响组织微环境和异位子宫内膜细胞的生长与子宫内膜异位症的发展相关。
