差异表达基因分析揭示重度斑秃的新型生物标志物和生物学变化  

Differentially expressed genes involved in severe alopecia areata and their diagnostic values

作　　者：王怡丹 鲁严[1] WANG Yidan;LU Yan(Department of Dermatology,the First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]南京医科大学第一附属医院皮肤科,江苏南京210029

出　　处：《临床皮肤科杂志》2024年第12期707-714,共8页Journal of Clinical Dermatology

摘　　要：目的:探讨与重度斑秃(AA)相关的生物标志物和生物学变化。方法:下载两份AA患者数据集,其中数据集GSE68801分为3个亚组:正常组(62例)、斑片型斑秃组(AAP)(28例)和全秃/普秃组(AT/AU)(32例)。通过京都基因和基因组百科全书(KEGG)、基因本体论(GO)和单样本基因集富集分析(ssGSEA)的方法对识别出的差异表达基因(DEGs)进行分析,并通过3种不同的机器学习算法在模块中筛选出受试者工作特征曲线下面积(AUC)均>0.7的3个基因,验证其诊断价值。最后,利用STRING和Cytoscape构建这些基因和相关转录因子的网络。结果:与正常组比较,在AT/AU中发现了703个DEGs。在DEGs的关键模块中,通过机器学习发现了3个枢纽基因,即BNC1、PPP1R1C和RMND5A。3个枢纽基因的AUC都表明枢纽基因在AAP和AT/AU以及GSE148346的AA组中具有较高的诊断价值(AUC>0.7)。结论:3个枢纽基因在GSE68801和GSE148346中均表现出令人满意的诊断能力,有助于诊断重度AA。这些发现还提出了针对与毛发周期和再生相关的基因和通路的AA新疗法。Objective:To investigate differentially expressed genes(DEGs)involved in severe alopecia areata(AA)and their diagnostic values.Methods:Two datasets of AA patients were downloaded.The data from the GSE68801 were divided into three subgroups:normal(62 cases),alopecia areata patchy(AAP)(28 cases),and alopecia totalis/universalis(AT/AU)(32 cases).The DEGs among the three groups were screened and analyzed using the Kyoto Encyclopedia of Genes and Genomes(KEGG),Gene Ontology(GO),and Single-Sample Gene Set Enrichment Analysis(ssGSEA).Three genes with an area under the receiver operating characteristic curve(AUC)greater than 0.7 were selected in the model using three machine learning algorithms,and their diagnostic values were validated.Finally,networks of these genes and related transcription factors were constructed using STRING and Cytoscape.Results:A total of 703 DEGs were found in the AT/AU.Three hub genes,including BNC1,PPP1R1C,and RMND5A,were filtered out from the key modules of DEGs.As shown by their AUCs,all three hub genes showed a high diagnostic value(AUC>0.7)in the AAP,AT/AU,as well as AA in the GSE148346.Conclusion:Three hub genes showed satisfactory diagnostic ability for severe AA in both GSE68801 and GSE148346.These genes and their related pathways might be exploited to regulate hair cycle and regeneration in the treatment of AA.

关 键 词：非瘢痕性脱发 免疫紊乱 毛发周期 BNC1 PPP1R1C RMND5A 

分 类 号：R758.71[医药卫生—皮肤病学与性病学]