痔组织的转录组特征及关键病理通路鉴定OA
Transcriptomic Characteristics of Hemorrhoid Tissues and Identification of Key Pathological Pathways
目的:分析比较痔组织与正常肛周组织的基因表达差异,探讨痔发生发展的关键分子机制.方法:通过转录组测序对痔及正常肛周组织基因表达谱进行分析,筛选差异表达基因.利用基因本体论(GO)、京都基因与基因组百科全书(KEGG)和基因集富集分析(GSEA)对差异表达基因的功能及相关信号通路进行富集分析.结果:与正常肛周组织相比,痔组织中共有1621个基因上调、1222个基因下调.GO富集结果显示,上调基因主要涉及血管发育、血管形态发生和细胞迁移等过程,而下调基因主要富集于核糖体结构、蛋白质翻译及共翻译膜靶向过程.KEGG分析显示,TNF、NF-κB、IL-17和MAPK等炎症及血管相关通路显著上调.GSEA分析进一步验证痔组织中炎症信号激活、血管生成增强和细胞外基质重塑等特征,提示炎症-血管网络在痔发生中具有关键作用.结论:痔组织表现出显著的炎症信号激活、血管结构与功能重塑以及细胞稳态的调控异常.炎症通路与血管重塑过程的持续激活可能共同推动痔的病理进程.本研究结果为深入理解痔的分子机制提供了新的依据,并提示调控炎症与血管异常可能成为未来治疗痔的潜在策略.
Objective To analyze and compare the gene expression differences between hemorrhoid tissues and normal perianal tissues,and to explore the key molecular mechanisms underlying the occurrence and devel-opment of hemorrhoids.Methods Transcriptome sequencing was used to analyze the gene expression pro-files of hemorrhoid and normal perianal tissues,and differentially expressed genes were screened.Enrichment analysis of the functions of differentially expressed genes and related signaling pathways was performed using Gene Ontology(GO),Kyoto Encyclopedia of Genes and Genomes(KEGG),and Gene Set Enrichment Analysis(GSEA).Results Compared with normal perianal tissues,a total of 1621 genes were up-regulated and 1222 genes were down-regulated in hemorrhoid tissues.GO enrichment results showed that up-regulated genes were mainly involved in processes such as blood vessel development,blood vessel morphogen-esis,and cell migration,while down-regulated genes were mainly enriched in ribosome structure,protein trans-lation,and co-translational membrane targeting.KEGG analysis revealed that inflammatory and angiogenesis-related pathways including TNF,NF-κB,IL-17,and MAPK were significantly up-regulated.GSEA analysis further verified the characteristics of activated inflammatory signaling,enhanced angiogenesis,and extracellular matrix remodeling in hemorrhoid tissues,suggesting that the inflammation-angiogenesis network played a criti-cal role in the pathogenesis of hemorrhoids.Conclusion Hemorrhoid tissues exhibit significant activation of inflammatory signaling,remodeling of vascular structure and function,and abnormal regulation of cellular homeostasis.Sustained activation of inflammatory pathways and vascular remodeling may jointly drive the pathological progression of hemorrhoids.The results of this study provide a new basis for in-depth understand-ing of the molecular mechanisms of hemorrhoids and suggest that regulating inflammation and vascular abnor-malities may serve as potential strategies for the future treatment of hemorrhoids.
黎春;马爱文;刘炬;王霞
山东大学山东省千佛山医院医学研究中心(山东 济南 250014)||德州市中西医结合医院/德州市肛肠医院(山东 德州 253000)德州市中西医结合医院/德州市肛肠医院(山东 德州 253000)山东大学山东省千佛山医院医学研究中心(山东 济南 250014)山东大学山东省千佛山医院医学研究中心(山东 济南 250014)
痔基因表达谱病理通路转录组测序
HemorrhoidsGene expression profilePathological pathwayTranscriptome sequencing
《中国肛肠病杂志》 2026 (3)
26-30,5
山东省自然科学基金青年项目(ZR2022QH341)
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