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郑屿萍,王锰,陶茂灿,曹毅,杨晓红.基于生物信息学方法探讨玫瑰痤疮关键基因与免疫浸润机制[J].浙江中西医结合杂志,2025,35(9):
基于生物信息学方法探讨玫瑰痤疮关键基因与免疫浸润机制
The key genes and immune infiltration mechanism of rosacea were studied based on bioinformatics method
投稿时间:2025-01-19  修订日期:2025-06-12
DOI:
中文关键词:  玫瑰痤疮  生物信息学  差异基因  信号通路  免疫浸润
英文关键词:Rosacea, Bioinformatics, Differential  gene, Signal  pathway, immune  infiltration
基金项目:浙江省中医院曹毅名中医工作室 Zhejiang Hospital of Traditional Chinese Medicine, CaoYi TCM studio (GZS2020022);浙江省中医药管理项目(2021ZA061)
作者单位E-mail
郑屿萍 浙江中医药大学附属第一医院浙江省中医院皮肤整形美容科 zypinsistence@163.com 
王锰 浙江中医药大学附属第一医院浙江省中医院皮肤整形美容科  
陶茂灿 浙江中医药大学附属第一医院浙江省中医院皮肤整形美容科  
曹毅 浙江中医药大学附属第一医院浙江省中医院皮肤整形美容科  
杨晓红* 浙江中医药大学附属第一医院浙江省中医院皮肤整形美容科 yangxiaohonghz@gmail.com 
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中文摘要:
      摘要 目的 筛选玫瑰痤疮与正常组织之间差异表达的关键基因,分析其在玫瑰痤疮发病中的可能机制。方法 从GEO数据库中获得GSE147950高通量测序表达谱数据,运用R语言进行差异表达基因筛选,通过微生信云平台进行GO功能富集分析和KEGG通路富集分析,并通过String网站进行蛋白互作网络(protein-protein interaction,PPI)的构建;用Cytoscape 3.10.3的插件 CytoHubba进行模块分析,筛选出关键基因,最后基于ImmuCellAI-mouse网络对玫瑰痤疮与正常皮肤之间的免疫细胞进行免疫浸润差异分析。结果 本研究共筛选出3496个差异表达基因。其中关键基因肌联蛋白C (Tcap)、α-辅肌动蛋白2 (Actn2)、肌球蛋白重链4(Myh4)、肌动蛋白α1(Acta1)、肌球蛋白结合蛋白C2(Mybpc2)、肌聚缩素(Myot)、肌浆网/内质网Ca2? ATP酶1型(Atp2a1)表达下调与玫瑰痤疮发病紧密相关。而与纤维化相关的差异基因链蛋白(Tnc)、C-X-C基序趋化因子5(CXCL5)、CCL12、前动力蛋白2(Prok2)等表达上调。GO分析富集在白细胞迁移、肌肉收缩、白细胞趋化性、含胶原蛋白的细胞外基质、免疫受体活性等方面。KEGG结果显示,差异表达基因与细胞因子-细胞因子受体的相互作用、钙信号通路等关系密切。活化的树突状细胞、中性粒细胞、M1型巨噬细胞、M0型巨噬细胞、Th17细胞、Th2细胞、单核细胞在玫瑰痤疮中较正常皮肤占比较高。结论 筛选出的关键基因和相关通路可能在玫瑰痤疮发生、发展中起着关键调节作用。
英文摘要:
      Abstract: Objective To screen the key genes differentially expressed between rosacea and normal tissues and analyze their possible mechanisms in rosacea pathogenesis. Methods GSE147950 high-throughput sequencing expression profile data was obtained from GEO database, and differential expression genes were screened using R language. GO functional enrichment analysis and KEGG pathway enrichment analysis were performed through Weishengxin cloud platform. The protein-protein interaction network (PPI) was constructed through the String website. CytoHubba, a plugin of Cytoscape 3.10.3, was used for module analysis to screen out key genes. Finally, the difference of immune infiltration between roacne and normal skin was analyzed based on ImmuCellAI-mouse network. Results A total of 3496 differentially expressed genes were screened in this study. The down-regulated expression of key genes Tcap, Actn2, Myh4, Acta1, Mybpc2, Myot and Atp2a1 is closely related to the incidence of rosette acne. The expression of differentially related genes Tnc, CXCL5, CCL12 and Prok2 was up-regulated. GO analysis was concentrated in the aspects of leukocyte migration, muscle contraction, leukocyte chemotaxis, extracellular matrix containing collagen, and immune receptor activity. KEGG results showed that the differentially expressed genes were closely related to the interaction of cytokine - cytokine receptor and calcium signaling pathway. Activated dendritic cells, neutrophils, M1 type macrophages, M0 type macrophages, Th17 cells, Th2 cells and monocytes were higher in rosacea than in normal skin. Conclusion The selected key genes and related pathways may play a key role in the occurrence and development of rosacea.
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