摘要： 目的 基于多种生物数据库探讨FAM189A2在食管癌中的表达及临床意义。方法 通过UALCAN对FAM189A2表达水平进行泛癌分析，分析其与食管癌分期、TP53突变的关系及甲基化水平。应用RT-PCR技术检测食管癌和正常食管中FAM189A2的表达水平。采用GEPIA分析FAM189A2对预后的影响，应用cBioportal和STRING数据库筛选共表达基因并构建调控网络。采用DAVID数据库将共表达基因进行基因本体论（GO）及京东基因和基因组（KEGG）富集分析。结果 FAM189A2 mRNA表达水平在食管癌中表达显著低于正常组织（P<0.05），且与临床分期、TP53突变状态等相关，差异均有统计学意义（P<0.05），FAM189A2低表达的食管癌患者预后不良（P<0.05），其低表达可能与甲基化有关，GO和KEGG富集分析结果显示，FAM189A2共表达基因主要参与细胞内信号传导、PI3K-Akt信号通路等。结论 FAM189A2在食管癌中表达低于正常组织，低表达患者预后不良，FAM189A2的表达与肿瘤的分期、病理分型和TP53突变状态密切相关。

基于生物信息学分析FAM189A2在食管癌中的表达及临床意义

王元国, 张鹏

天津医科大学总医院心胸外科, 天津 300052

收稿日期:2022-11-08出版日期:2023-03-30发布日期:2023-03-21
通讯作者:张鹏E-mail:zhangfapeng@aliyun.com
作者简介:王元国(1984-),男,主管技师,硕士.
基金资助:京津冀基础研究合作专项（20JCZXJC00190）；天津市自然科学基金（19JCZDJC35500）


关键词: 食管癌, 生物信息学, 预后
Abstract: Objective To investigate the expression and clinical significance of FAM189A2 in esophageal carcinoma using information from a variety of databases. Methods Using UALCAN，a pan-cancer analysis of FAM189A2 expression was performed，and the relationship between FAM189A2 expression level，esophageal cancer stage，TP53 mutation and methylation level was analyzed. The expression of FAM189A2 in esophageal cancer and normal esophageal tissue was determined using RT-PCR. The relationship between prognosis and FAM189A2 expression was analyzed using the GEPIA database，co-expressed genes were screened by the cBioportal and STRING databases and a regulatory network was constructed. The DAVID database was used for Gene Ontology （GO） and Kyoto Encyclopedia of Genes and Genomes （KEGG） enrichment analysis. Results The expression level of FAM189A2 mRNA in esophageal cancer was significantly lower than that in normal tissues （P<0.05） and was correlated with clinical stage and TP53 mutation status. The differences were statistically significant （P<0.05）. Patients with low FAM189A2 expression in esophageal cancer had poor prognosis （P<0.05）. The low expression of FAM189A2 may be related to gene methylation. GO and KEGG enrichment analysis showed that the gene that co-expressed with FAM189A2 was mainly involved in intracellular signaling and the PI3K-Akt signaling pathway. Conclusion The expression of FAM189A2 in esophageal cancer is lower than that in normal tissues，and the prognosis of patients with low expression is poor. The expression of FAM189A2 is closely related to tumor stage，pathological type and TP53 mutation status.
Key words: esophageal cancer, bioinformatics, prognosis
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