SEPT家族基因异常表达在食管鳞癌中的临床意义及作用机制

发布时间：2018-02-25 18:04

本文关键词： 食管鳞癌 SEPT家族基因差异表达基因生物信息学 PI3K/Akt 通路　出处：《北京协和医学院》2017年博士论文　论文类型：学位论文

【摘要】：目的:在SEPT家族基因中,筛选出在食管鳞癌中差异表达且有临床意义的亚群,并通过生物信息学方法探索,在SEPT不同表达组间存在的差异表达基因,以探索SEPT可能存在的机制。方法:获取本实验室发表的食管鳞癌mRNA表达数据,筛选肿瘤组织与正常组织中差异表达的SEPT家族基因。差异表达基因根据其相应的表达水平分为两组,并进行生存分析,研究差异表达SEPT基因对食管鳞癌预后的影响。将第二步中得到的与食管鳞癌预后相关的SEPT家族基因分为高表达组及低表达组,使用edgeR、DESeq2两款生物信息学软件,分析SEPT不同表达水平分组间的差异表达基因,使用DAVID在线分析工具,通过GO(Gene Ontology)富集分析及KEGG pathway分析,探索差异表达基因潜在的功能。结果:SEPT家族基因中,除SEPT4外,其余成员均在肿瘤细胞中差异表达。其中,SEPT6、SEPT9及SEPT12的表达水平与食管鳞癌患者的总生存期相关。在SEPT6基因高表达组和低表达组之间分别使用edgeR和DESeq2共计辨识出15995和18075个差异表达基因;综合使用两款差异表达分析软件对SEPT9的高/低表达组进行分析得到的结果为273个差异表达基因;在SEPT6基因高表达组和低表达组之间分别使用edgeR和DESeq2共计辨识出和个差异表达基因。对SEPT9高/低表达组间的273个差异表达基因进行功能上的分析,发现差异表达基因的产物多富集于细胞膜周;功能上多与信号转导、细胞间识别相关;涉及PI3K/Akt通路。
[Abstract]:Objective: to screen the differentially expressed and clinically significant subsets of SEPT family genes in esophageal squamous cell carcinoma, and to explore the differentially expressed genes in different expression groups of SEPT by bioinformatics. To explore the possible mechanism of SEPT. Methods: to obtain the data of mRNA expression in esophageal squamous cell carcinoma published in our laboratory. The differentially expressed SEPT family genes in tumor tissues and normal tissues were screened. The differentially expressed genes were divided into two groups according to their corresponding expression levels, and survival analysis was carried out. To study the effect of differentially expressed SEPT gene on the prognosis of esophageal squamous cell carcinoma, the SEPT family genes obtained in the second step were divided into two groups: high expression group and low expression group. The differential expression genes in different expression levels of SEPT were analyzed. The potential functions of differentially expressed genes were explored by means of GO(Gene Ontology enrichment analysis and KEGG pathway analysis using DAVID online analysis tools. The expression levels of SEPT6, SEPT9 and SEPT12 were correlated with the total survival time of patients with esophageal squamous cell carcinoma. A total of 15995 and 15995 were identified by edgeR and DESeq2 between high and low expression groups of SEPT6 gene, respectively. 18075 differentially expressed genes; Using two differential expression analysis software, 273 differentially expressed genes were obtained in the high / low expression group of SEPT9. A total of edgeR and DESeq2 were used to identify and differentiate the differentially expressed genes between the high and low expression groups of SEPT6 gene. The functional analysis of 273 differentially expressed genes in the high / low expression group of SEPT9 was carried out. It was found that the products of differentially expressed genes were mostly enriched around the cell membrane, functionally related to signal transduction and intercellular recognition, and involved in PI3K/Akt pathway.
【学位授予单位】：北京协和医学院
【学位级别】：博士
【学位授予年份】：2017
【分类号】：R735.1

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