基于RNA-Seq的子宫内膜癌灶与癌旁组织差异表达基因分析

Based on analysis of RNA-Seq endometrial cancer and tissue adjacent to carcinoma differentially expressed genes

目的 利用转录组测序(RNA sequencing, RNA-Seq)技术分析肥胖相关子宫内膜癌(Endometrial Cancer, EC)癌灶及癌旁组织中的差异表达基因,寻找肥胖相关EC发生、发展的相关危险因素。方法 对4例超重/肥胖伴EC患者的癌灶和癌旁组织进行转录组测序,筛选差异表达基因,并运用生物信息学技术对差异基因进行功能和通路富集分析。结果 在EC癌灶及癌旁组织中共筛选出2 451个差异表达基因,包含1 697个上调基因,754个下调基因。GO功能富集分析表明:肥胖相关EC的发生发展与细胞间粘附调节、有丝分裂进程和错误蛋白折叠结合等一系列生物学进程密切相关。KEGG功能富集分析表明:肥胖相关EC的发生发展与病毒致癌、细胞周期、Hippo信号通路、细胞凋亡和p53信号通路等密切相关。结论 Hippo信号通路、p53信号通路和NETs信号通路可能在肥胖相关EC发生发展过程中发挥重要作用。

Objective To analyze the differentially expressed genes in the foci and paracancer tissues of obesity-related Endometrial Cancer(EC) using RNA sequencing(RNA-Seq) technology, and to find the risk factors for the occurrence and development of obesity-related EC. Methods Transcriptome sequencing was performed on cancer foci and paracancer tissues of 4 overweight/obese patients with EC to screen differentially expressed genes, and bioinformatics techniques were used to analyze the function and pathway enrichment of differentially expressed genes. Results A total of 2 451 differentially expressed genes were screened from EC tumor foci and adjacent tissues, including 1 697 up-regulated differentially expressed genes and 754 down-regulated differentially expressed genes. GO enrichment analysis indicated that the occurrence and development of obesity-related EC was closely related to a series of biological processes such as intercellular adhesion regulation, mitosis process and misfolding binding of proteins. KEGG functional enrichment analysis showed that the occurrence and development of obesity-related EC was closely related to viral carcinogenesis, cell cycle, Hippo signaling pathway, apoptosis and p53 signaling pathway. Conclusion Hippo signaling pathway, p53 signaling pathway and NETs signaling pathway may play an important role in the development of obesity-related EC.