[1]刘思浩a,张晓浩b,许志鹏a.基于GEO和TCGA数据库筛选头颈部鳞状细胞癌差异表达关键基因及其预后价值分析[J].现代检验医学杂志,2025,40(02):47.[doi:10.3969/j.issn.1671-7414.2025.02.009]
　LIU Sihaoa,ZHANG Xiaohaob,XU Zhipenga.Screening of Differentially Expressed Key Genes in Head and Neck Squamous Cell Carcinoma and Analysis of Their Prognostic Value Based on GEO and TCGA Databases[J].Journal of Modern Laboratory Medicine,2025,40(02):47.[doi:10.3969/j.issn.1671-7414.2025.02.009]
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基于GEO和TCGA数据库筛选头颈部鳞状细胞癌差异表达关键基因及其预后价值分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第40卷
期数:
2025年02期
页码:
47
栏目:
论著
出版日期:
2025-03-15

文章信息/Info

Title:
Screening of Differentially Expressed Key Genes in Head and Neck Squamous Cell Carcinoma and Analysis of Their Prognostic Value Based on GEO and TCGA Databases
文章编号:
1671-7414（2025）02-047-07
作者:
刘思浩a; 张晓浩b; 许志鹏a
（陕西省人民医院 a. 口腔科；b. 口腔种植科，西安 710068）
Author(s):
LIU Sihaoa; ZHANG Xiaohaob; XU Zhipenga
(a. Department of Stomatology；b. Department of Oral Implantology， Shaanxi Provincial People’s Hospital，Xi’an 710068，China)
关键词:
头颈部鳞状细胞癌; 生物标志物; 生物信息学分析
分类号:
R739.91；R730.43
DOI:
10.3969/j.issn.1671-7414.2025.02.009
文献标志码:
A
摘要:
目的 基于基因表达综合数据库（GEO）和肿瘤基因图谱（TCGA）数据库生物学信息，筛选头颈部鳞状细胞癌（HNSCC）中差异表达的关键基因，并分析其预后价值。方法 从GEO 数据库下载HNSCC 的mRNA（GSE74530）表达数据作为测试数据集，鉴定出差异表达基因（DEGs）。利用生物本体论（GO）和京都基因与基因组百科全书（KEGG）富集分析，探讨DEG 在HNSCC 中的生物学功能。从TCGA 数据库获取HNSCC mRNA 表达数据作为验证数据集，初步验证DEGs 在HNSCC 组织和正常组织中的表达情况。利用cBioPortal 数据库分析7 个上调DEGs 的变异，然后通过Kaplan-meier 法和COX 回归分析评估其对HNSCC 患者生存期的影响。借助cBioPortal 数据库分析ATP6V1C1 的共表达基因。结果 GSE74530 测试数据集共筛选出HNSCC 组织和癌旁组织的差异基因1 432 个，其中最显著的10 个基因中上调的基因7 个，分别是：MMP1，WDR66，PTPRZ1，TEAD4，RBM38，ATP6V1C1 和CBLB，下调的是CGNL1，LOC100506990 和ADH1B。GO 和KEGG 富集分析结果显示：HNSCC 组织差异基因主要富集在淋巴细胞迁移和细胞外基质调控等通路。TCGA 数据集证实7 个上调的DEGs 在HNSCC 中呈高表达水平。cBioPortal 分析显示7 个上调基因中ATP6V1C1 基因变化比例最高，其高表达患者的总生存率显著下降。相关性分析发现 BIRC5 是与ATP6V1C1 关系最紧密的基因。结论 HNSCC 患者MMP1，WDR66，PTPRZ1，TEAD4，RBM38，ATP6V1C1 和CBLB 高表达，其中ATP6V1C1 最为显著，且其表达水平与HNSCC 患者的预后不良相关。ATP6V1C1 有望成为HNSCC 临床早期诊断及预后的生物标志物，为临床诊疗提供新的思路。
Abstract:
Objective To screen key differentially expressed genes in head and neck squamous cell carcinoma (HNSCC) and analyze their prognostic value, based on biological information from gene expression omnibus (GEO) and the cancer genome atlas (TCGA) databases. Methods HNSCC mRNA expression data (GSE74530) were downloaded from the GEO database as a test dataset, and differentially expressed genes (DEGs) were identified. The biological function of DEGs in HNSCC was investigated by gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis. HNSCC mRNA expression data were obtained from the TCGA database as a validation dataset to preliminarily verify the expression of DEGs in HNSCC tissues and normal tissues. Seven up-regulated DEGs variants were analyzed using the cBioPortal database, and their effects on the survival of HNSCC patients were evaluated by the Kaplan-meier method and COX regression analysis. The co-expressed genes of ATP6V1C1 were analyzed by the cBioPortal database. Results A total of 1 432 differential genes were screened from HNSCC tissue and paracancerous tissue in the GSE74530 test dataset, among which 7 of the 10 most significant genes were up-regulated, respectively: MMP1, WDR66, PTPRZ1, TEAD4, RBM38, ATP6V1C1 and CBLB were downregulated by CGNL1, LOC100506990 and ADH1B. GO and KEGG enrichment analysis showed that HNSCC tissue differential genes were mainly enriched in lymphocyte migration and extracellular matrix regulation pathways. The TCGA dataset confirmed that 7 upregulated DEGs were highly expressed in HNSCC. cBioPortal analysis showed that the proportion of ATP6V1C1 gene changes was the highest among the 7 up-regulated genes, and the overall survival rate of patients with high expression of ATP6V1C1 gene decreased significantly. Correlation analysis showed that BIRC5 was the most closely related gene to ATP6V1C1. Conclusion MMP1, WDR66, PTPRZ1, TEAD4, RBM38, ATP6V1C1 and CBLB were highly expressed in HNSCC patients, among which ATP6V1C1 was the most significant, and its expression level was associated with poor prognosis in HNSCC patients. ATP6V1C1 is expected to be a biomarker for early diagnosis and prognosis of HNSCC, providing a new idea for clinical diagnosis and treatment.

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备注/Memo

备注/Memo:
基金项目：陕西省社会发展科技攻关项目（No. 2015SF159）。
作者简介：刘思浩（1994-），男，硕士研究生，主治医师，专业：口腔颌面外科，研究方向：颌面部肿瘤治疗，E-mail：2030966838@qq.com。
通讯作者：许志鹏（1979-），男，硕士研究生，副主任医师，专业：口腔颌面外科，研究方向：颌面部肿瘤治疗，E-mail：sxkq88@126.com。
更新日期/Last Update: 2025-03-15