常染色体显性多囊肾病(ADPKD)相关潜在基因特征的生物信息学分析  

Bioinformatics Analysis of Latent Genetic Characteristics Related with Autosomal Dominant Polycystic Kidney Disease

作　　者：韩君 HAN Jun(Beijing Tcmages Pharmaceutical Co.,Ltd.,Beijing 101301)

机构地区：[1]北京康仁堂药业有限公司,北京101301

出　　处：《按摩与康复医学》2022年第23期61-65,共5页Chinese Manipulation and Rehabilitation Medicine

摘　　要：目的:探讨由瞬时受体电位通道相互作用多囊蛋白1(PKD1)和瞬时受体电位通道相互作用多囊蛋白2(PKD2)这两个基因的突变导致引起的常染色体显性多囊肾病(ADPKD)有关的枢纽基因。方法:从基因表达综合(GEO)数据库中提取数据集,蛋白互作网络(PPI)模块和中心基因通过Cytoscap进行分析。从GEO数据库中获得已发表的ADPKD数据集(GSE32586),以评估关键基因的表达水平和诊断价值。结果:在ADPKD和正常样本之间共筛选出1000个差异表达基因(DEGs)(556个上调的DEGs和444个下调DEGs)。基于PPI网络筛选出10个中心基因(CD44、MMP2、FGF2、MYC、COL1A1、CAT、EGF、FN1、JUN、ALB)。GSE32586中基因JUN上调明显其表达水平与整合分析相一致。结论:GSE32586的ROC分析显示,JUN对ADPKD患者可能有诊断价值,该中心基因可能是ADPKD的生物标志物,为ADPKD的辅助干预提供了治疗目标和调控方法。Objective:To determine hub genes related with autosomal dominant polycystic kidney disease(ADPKD) caused by mutations of transient receptor potential channel interaction polycystin 1(PKD1) and polycystin 2(PKD2).Method:In this study,dataset was extracted from the gene expression ominibus(GEO) database,while protein-protein interaction(PPI) module and central genes were analyzed through Cytoscap.Finally,the published ADPKD database(GSE32586) was acquired from the GEO database to evaluate expression level and diagnosis value of key genes.Results:A total of 1,000 differentially expressed genes(DEGs)(556 upregulated ones and 444 downregulated ones) are screened between ADPKD and normal samples.Ten central genes(CD44,MMP2,FGF2,MYC,COL1A1,CAT,EGF,FN1,JUN and ALB) are screened based on PPI network.In the GSE32586,the gene JUN is upregulated obviously and its expression level is consistent with the conlfuence analysis.ROC analysis of GSE32586 shows that JUN might have diagnosis value to patients with ADPKD.Conclusion:JUN might be a biomarker of ADPKD and provides treatment objective and control method to auxiliary interference of ADPKD.

关 键 词：常染色体显性多囊肾病 生物信息学 中心基因 罕见病 诊断 

分 类 号：R245[医药卫生—针灸推拿学]