摘要
目的:利用生物信息学与机器学习筛选阳虚质强直性脊柱炎(AS)中的关键基因。方法:从GEO数据库获取GSE87474中平和质和阳虚体质人群的数据以及AS相关的数据集GSE181364。分别利用Limma包和Wilcox Test筛选数据集中的差异表达基因(DEGs),并将两类DEGs进行交集,确定阳虚质AS相关基因。使用支持向量机-递归特征消除(SVM-RFE)和最小绝对值收敛与选择算子(LASSO),识别阳虚质AS相关基因中的关键基因,并利用pROC包绘制关键基因的受试者工作特征(ROC)曲线,以评价其诊断效能。结果:从GSE87474数据集中筛选出455个与阳虚质相关的DEGs,从GSE181364数据集中筛选出1525个与AS相关的DEGs,两者取交集后获得16个阳虚质AS相关基因,Lasso与SVM-RFE算法从16个相关基因中鉴定出5个关键基因,即纺锤家族成员4(SPIN4)、跨膜蛋白68(TMEM68)、锌指蛋白92(ZNF92)、瘦素受体重叠转录样1(LEPROTL1)、G蛋白偶联受体183(GPR183)。ROC分析结果显示,5个关键基因均表现出良好的诊断阳虚质和AS的效能。结论:发现SPIN4、TMEM68、ZNF9、LEPROTL1、GPR183可能为阳虚质AS的潜在关键基因,可为进一步阐明阳虚质AS的生物学机制及潜在临床诊断标志物,为从中医体质“体病相关”学说论治AS提供新的思路。
Objective:Using bioinformatics and machine learning to screen hub genes in Yang deficiency ankylosing spondylitis(AS).Methods:The GSE87474 and GSE181364 dataset were obtained.The differentially expressed genes(DEGs)were screened in each dataset,and the intersection of the two sets were taken to obtain genes related to yang deficiency AS.Then,the machine learning algorithms were employed to identify hub genes.The diagnostic performance of the hub genes were evaluated.Results:455 Yang deficiency-related DEGs were identified from the GSE87474 dataset,and 1525 AS-related DEGs were identified from the GSE181364 dataset.The intersection of the two sets yielded 16 yang deficiency AS-related genes.5 hub genes,namely spindle family member 4(SPIN4),transmembrane protein 68(TMEM68),zinc finger protein 92(ZNF92),leptin receptor overlapping transcript-like 1(LEPROTL1),and G protein-coupled receptor 183(GPR183),were identified.all 5 key genes exhibited good diagnostic performance for Yang deficiency and AS.Conclusion:This study identified SPIN4,TMEM68,ZNF9,LEPROTL1,and GPR183 as potential hub genes for Yang deficiency AS,which could provide new avenues for further elucidating the biological mechanisms of Yang deficiency AS,developing potential clinical diagnostic markers,and offer new insights into treating AS based on the theory of“constitution-disease correlation”.
作者
崔家伟
杨磊
史相钦
高轩
朱言
张红星
Cui Jiawei;Yang Lei;Shi Xiangqin;Gao Xuan;Zhu Yan;Zhang Hongxing(Luoyang Orthopaedic Hospital of Henan Province/Henan Provincial Orthopaedic Hospital,Luoyang 471002,China)
出处
《亚太传统医药》
2025年第2期138-145,共8页
Asia-Pacific Traditional Medicine
基金
河南省中医药科学研究专项课题(20-21ZY2252)。
