基于GEO数据库筛选年龄相关性听力损失关键基因的分析研究

doi:10.6040/j.issn.1673-3770.0.2024.011

摘要/Abstract

摘要： 目的应用生物信息学方法筛选年龄相关性听力损失的关键基因,探讨为年龄相关性听力损失的临床诊断和治疗提供新理论依据。方法从GEO数据库中获取与年龄相关性听力损失相关的两个数据集,通过GEO2R工具分析差异表达基因;利用DAVID在线软件对差异表达基因进行功能富集分析;利用STRING数据库和Cytoscape软件构建蛋白互作网络图;利用 Cytoscape软件中的CytoHubba插件筛选出关键基因,最后在动物模型中加以验证。结果从GSE127204和GSE196870数据集中选出100个共有差异基因(differentially expressed genes, DEGs);GO(gene ontology, GO)和KEGG(kyoto encyclopedia of genes and genome, KEGG)富集分析发现差异表达基因主要富集在细胞因子-细胞因子受体相互作用等通路;利用Cytoscape软件筛选出关键基因,包括IRF7、PTPRC、CXCL10、IFI44、IFI204、USP18和CD4 。在此基础上通过RT-qRCR检测小鼠耳蜗组织中7个关键基因的表达,进一步验证以上7个基因在年龄相关性耳聋中均为高表达。结论本研究利用生物信息学筛选结合RT-qRCR检测小鼠耳蜗组织等实验结果,证实在年龄相关性听力损失中7个关键基因表达显著升高。该研究为年龄相关性听力损失的前期诊断和临床治疗提供新思路和理论依据。

关键词: 年龄相关性听力损失, 枢纽基因, 蛋白互助作用, 富集分析

Abstract: Objective Screen for the key genes of age-related hearing loss(ARHL)using bioinformatics methods, and provide a new theoretical basis for the clinical diagnosis and treatment of ARHL. Methods Two data sets related to ARHL were obtained from the GEO database and differentially expressed genes(DEGs)were analyzed using the GEO2R tool. DEGs were analyzed using Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genome(KEGG)enrichment analysis using the DAVID tool, and a protein-protein interaction(PPI)network was constructed based on STRING database and Cytoscape software. The key genes were screened by the CytoHubba plug-in in Cytoscape software. Key genes were verified in the DEAF model mice. Results 100 DEGs(Differentially Expressed Genes)were selected from the GSE127204 and GSE196870datasets, and the enrichment analysis of GO and KEGG found that they were mainly enriched in cytokine-cytokine receptor interaction and other pathways. Key genes were selected by Cytoscape software, including IRF7, PTPRC, CXCL10, IFI44, IFI204, USP18 and CD4. On this basis, RT-qRCR was used to detect the expression of 7 key genes in mouse cochlear tissue, which further verifying that the above 7 genes were highly expressed in age-related deafness. Conclusion In this study, bioinformatics screening combined with RT-qRCR detection of mouse cochlear tissue and other experimental results confirmed that the expression of 7 key genes was significantly increased in age-related hearing loss.This study provides a new idea and theoretical basis for the early diagnosis and clinical treatment of age-related hearing loss.

Key words: Age-related hearing loss, Hub genes, Protein-protein interaction, Enrichment analysis

中图分类号:

R764.43

张丽霞,李琳. 基于GEO数据库筛选年龄相关性听力损失关键基因的分析研究[J]. 山东大学耳鼻喉眼学报, 2025, 39(3): 104-114.

ZHANG Lixia, LI Lin. Research on screening the key genes of age-related hearing loss by GEO database[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2025, 39(3): 104-114.

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