摘要
目的通过生物信息学和机器学习识别肺动脉高压(PAH)患者中与代谢相关的特征基因,并进一步探索特征基因在PAH诊断中的价值。方法通过GEO公共数据库获得与PAH代谢相关基因,并进行相关基因本体论与京都基因与基因组百科全书的富集分析,通过最小绝对值收敛和选择算子(LASSO)和支持向量机-递归特征消除(SVM-RFE)两种机器学习算法筛选特征基因,并在验证数据集中进行验证。结果在137个与PAH代谢相关的基因矩阵中获得了6个下调基因和11个上调基因的PAH代谢相关差异表达基因,运用机器学习算法后得到2个交叉的特征标志基因:异柠檬酸脱氢酶1(IDH1)和乙酰氨基葡萄糖磷酸酶(PGM3),两个独立的外部验证数据集验证后发现IDH1诊断价值较高。结论IDH1可能作为PAH患者中与代谢相关的特征基因,其与PAH代谢相关的生理病理过程存在密切联系。
Objective To identify metabolism-related signature genes in patients with pulmonary arterial hypertension(PAH)by bioinformatics and machine learning,and to further explore the value of signature genes in the diagnosis of PAH.Methods Data sets related to PAH metabolism were obtained through GEO public database,and gene ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis were performed.The minimum absolute shrinkage Selection operator(LASSO)and Support Vector Machine-Recursive Feature Elimination(SVM-RFE)were used to screen genes and verify them in the validation data set.Results In the matrix of 137 genes related to PAH metabolism,six down-regulated genes and 11 up-regulated genes were obtained for differentially expressed genes related to PAH metabolism.After machine learning algorithms,two crossover characteristic marker genes were obtained:isocitrate dehydrogenase 1(IDH1)and acetylglucosamine phosphatase(PGM3).After verification of two independent external verification data sets,IDH1 was found to be of higher diagnostic value.Conclusion IDH1 may be a characteristic gene related to metabolism in PAH patients,and it is closely related to the physiological and pathological processes related to PAH metabolism.
作者
姜晨阳
钟国强
JIANG Chen-yang;ZHONG Guo-qiang(Department of Cardiovascular Medicine,The First Affiliated Hospital of Guangxi Medical University,Nanning,Guangxi 530021,China)
出处
《现代预防医学》
CAS
北大核心
2021年第14期2497-2501,共5页
Modern Preventive Medicine
基金
国家自然科学基金(82060068)。
关键词
生物信息学
肺动脉高压
机器学习
Bioinformatics
Pulmonary Hypertension
Machine Learning
作者简介
姜晨阳(1994—),男,硕士在读,研究方向:心血管病的防治;通信作者:钟国强,E-mail:drguoqiang@163.com。
