基于生物信息学技术探索精神分裂症发病的关键基因及诊断的生物标志物  

Exploring key genes in the pathogenesis of schizophrenia and biomarkers for diagnosis based on bioinformatics technology

作　　者：郑帆帆 金柳荫 舒畅[1] 王惠玲[1] Zheng Fanfan;Jin Liuyin;Shu Chang;Wang Huiling(Mental Health Center of Renmin Hospital,Wuhan University,Wuhan 430000,China)

机构地区：[1]武汉大学人民医院精神卫生中心,430000

出　　处：《神经疾病与精神卫生》2023年第5期346-353,共8页Journal of Neuroscience and Mental Health

摘　　要：目的基于生物信息学分析精神分裂症发病的可能分子机制,并分析诊断精神分裂症的生物标志物。方法选择基因表达综合数据库(GEO)中的GSE48072数据集,对31例精神分裂症患者和35名健康对照者的mRNA表达谱进行生物信息学分析。对筛选得到的差异基因进行功能富集分析。采用string数据库构建差异基因的蛋白-蛋白相互作用(PPI)网络,并通过Cytoscape软件筛选关键基因。关键基因的诊断价值通过受试者工作特征(ROC)曲线验证。结果共筛选出82个差异基因。富集分析结果显示,差异基因主要集中在炎症、免疫调节和不饱和脂肪酸代谢中。筛选后获得CD244、GZMH、GZMA、KLRD1、GZMK 5个关键基因,ROC曲线下面积分别为0.817、0.725、0.724、0.717、0.693。结论精神分裂症患者存在炎症通路、不饱和脂肪酸以及维生素代谢异常,CD244等5个相关基因的表达变化可作为精神分裂症发病诊断的生物学标志物。Objective Using bioinformatics analysis to explore possible molecular mechanisms in the pathogenesis of schizophrenia and to search for biomarkers for the diagnosis of schizophrenia.Methods The GSE48072 dataset from the Gene Expression Omnibus(GEO)database was selected for bioinformatic analysis of the mRNA expression profiles of 31 schizophrenia patients and 35 healthy controls.Functional enrichment analysis was performed on the differential genes obtained from the screening.The protein-protein interaction(PPI)network of differential genes was constructed using string database and key genes were screened by Cytoscape software.The Cytoscape plugin CytoHubba was used to search for hub genes.The diagnostic value of key genes was verified by subject operating characteristic(ROC)curves.Results A total of 82 differential genes were screened.The results of the enrichment analysis showed that the differential genes were mainly concentrated in inflammation,immune regulation and unsaturated fatty acid metabolism.A total of 5 hub genes,CD244,GZMH,GZMA,KLRD1 and GZMK,were obtained after screening,and the areas under the ROC curves were 0.817,0.725,0.724,0.717 and 0.693,respectively.Conclusions Patients with schizophrenia have abnormalities in inflammatory pathways,unsaturated fatty acids,and vitamin metabolism.The expression changes of CD244 and other 5 related genes can be used as biological markers for the diagnosis of schizophrenia.

关 键 词：精神分裂症 生物学诊断 不饱和脂肪酸代谢 免疫调节 CD244分子 

分 类 号：R749.3[医药卫生—神经病学与精神病学] Q811.4[医药卫生—临床医学]