基于生物信息学分析ESPL1基因在肺腺癌中表达与突变的临床意义

Clinical significance of ESPL1 gene expression and mutation in lung adenocarcinoma based on bioinformatics analysis

目的研究ESPL1在肺腺癌中的表达及突变情况,探索ESPL1在肺腺癌中的预后价值及生物学功能。方法TCGA数据库中下载并整理肺腺癌中ESPL1基因表达数据及患者的临床病理信息,比较ESPL1在肺腺癌与正常组织中的表达差异。通过c Bioportal分析ESPL1基因突变率及突变患者的预后情况。Kaplan-Meier法分析ESPL1表达对患者预后的影响并利用GEPIA与Kaplan Meier-plotter在线工具对此进行验证。通过COX回归分析ESPL1表达与肺腺癌患者临床预后相关性,用STRING数据库探索与ESPL1共表达的蛋白互作网络。利用GSEA富集分析预测ESPL1在肺腺癌中参与的分子通路。结果ESPL1表达在肺腺癌中显著上调(P<0.05),ESPL1在TCGA数据库样本中突变率为1.6%且突变组患者生存率显著降低,差异有统计学意义(P<0.05)。ESPL1高表达组患者的总体生存率低于低表达组,差异有统计学意义(P<0.05)。ESPL1的表达水平与stage分期及远处转移显著相关(P<0.05),是肺腺癌预后的独立危险因素(HR=1.122,95%CI:1.014~1.241,P<0.05)。富集分析结果显示ESPL1主要富集在细胞周期、碱基切除修复及Wnt信号通路等。结论ESPL1在肺腺癌患者中高表达并具有一定突变率,可参与多种信号通路促进肺腺癌的发生发展并影响其预后,ESPL1有望成为评价肺腺癌预后及治疗靶点。

Objective To study the expression and mutation of ESPL1 and explore the prognostic value and biological function of ESPL1 in lung adenocarcinoma.Methods ESPL1 expression profile and clinicopathological data of lung adenocarcinoma patients were downloaded from the TCGA database.The expression differences between the cancer group and the normal control group were compared.ESPL1 mutation rate and the prognosis of mutant patients were analyzed by cBioportal.Kaplan-Meier method was used to perform survival analysis,GEPIA and Kaplan Meier-plotter online tools were used to verify the prognostic value.COX regression was used to analyze the correlation between ESPL1 expression and the clinical prognosis of patients with lung adenocarcinoma,and the STRING database was used to explore the protein interaction network co-expressed with ESPL1.GSEA enrichment analysis was used to predict the molecular pathway involved in ESPL1 in lung adenocarcinoma.Results The expression level of ESPL1 in the lung adenocarcinoma group was higher than that in the normal control group(P<0.05).The mutation rate of ESPL1 in the TCGA database samples was 1.6%and the survival rate of patients in the mutation group was significantly reduced(P<0.05).The overall survival rate of ESPL1 in the ESPL1 high expression group was lower than that in the low expression group.The expression level of ESPL1 was significantly related to TNM stage and distant metastasis(P<0.05).ESPL1 was an independent risk factor for the prognosis of lung adenocarcinoma(HR=1.122,95%CI:1.014-1.241,P<0.05).The GSEA enrichment analysis results indicated that ESPL1 was mainly enriched in cell cycle,base excision repair and Wnt signaling pathway.Conclusion ESPL1 is highly expressed in patients with lung adenocarcinoma and has a certain mutation rate.It can participate in a variety of signaling pathways to promote the occurrence and development of lung adenocarcinoma and affect its prognosis.ESPL1 is expected to be a target for evaluating the prognosis and treatment of lung adenocarcinoma.