A machine learning model and identification of immune infiltration for chronic obstructive pulmonary disease based on disulfidptosis-related genes.

IF 2.1 4区 医学 Q3 GENETICS & HEREDITY BMC Medical Genomics Pub Date : 2025-01-08 DOI:10.1186/s12920-024-02076-2
Sijun Li, Qingdong Zhu, Aichun Huang, Yanqun Lan, Xiaoying Wei, Huawei He, Xiayan Meng, Weiwen Li, Yanrong Lin, Shixiong Yang
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Abstract

Background: Chronic obstructive pulmonary disease (COPD) is a chronic and progressive lung disease. Disulfidptosis-related genes (DRGs) may be involved in the pathogenesis of COPD. From the perspective of predictive, preventive, and personalized medicine (PPPM), clarifying the role of disulfidptosis in the development of COPD could provide a opportunity for primary prediction, targeted prevention, and personalized treatment of the disease.

Methods: We analyzed the expression profiles of DRGs and immune cell infiltration in COPD patients by using the GSE38974 dataset. According to the DRGs, molecular clusters and related immune cell infiltration levels were explored in individuals with COPD. Next, co-expression modules and cluster-specific differentially expressed genes were identified by the Weighted Gene Co-expression Network Analysis (WGCNA). Comparing the performance of the random forest (RF), support vector machine (SVM), generalized linear model (GLM), and eXtreme Gradient Boosting (XGB), we constructed the ptimal machine learning model.

Results: DE-DRGs, differential immune cells and two clusters were identified. Notable difference in DRGs, immune cell populations, biological processes, and pathway behaviors were noted among the two clusters. Besides, significant differences in DRGs, immune cells, biological functions, and pathway activities were observed between the two clusters.A nomogram was created to aid in the practical application of clinical procedures. The SVM model achieved the best results in differentiating COPD patients across various clusters. Following that, we identified the top five genes as predictor genes via SVM model. These five genes related to the model were strongly linked to traits of the individuals with COPD.

Conclusion: Our study demonstrated the relationship between disulfidptosis and COPD and established an optimal machine-learning model to evaluate the subtypes and traits of COPD. DRGs serve as a target for future predictive diagnostics, targeted prevention, and individualized therapy in COPD, facilitating the transition from reactive medical services to PPPM in the management of the disease.

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基于二硫中毒相关基因的慢性阻塞性肺疾病免疫浸润机器学习模型及识别
背景:慢性阻塞性肺疾病(COPD)是一种慢性进行性肺部疾病。二硫中毒相关基因(DRGs)可能参与COPD的发病机制。从预测、预防和个性化医学(PPPM)的角度来看,明确二翘下垂在COPD发展中的作用可以为COPD的初步预测、针对性预防和个性化治疗提供机会。方法:使用GSE38974数据集分析COPD患者DRGs表达谱和免疫细胞浸润。根据DRGs,研究COPD患者的分子聚集和相关免疫细胞浸润水平。接下来,通过加权基因共表达网络分析(Weighted Gene co-expression Network Analysis, WGCNA)鉴定共表达模块和集群特异性差异表达基因。通过比较随机森林(RF)、支持向量机(SVM)、广义线性模型(GLM)和极限梯度增强(XGB)的性能,构建了最优的机器学习模型。结果:鉴定出DE-DRGs、差异免疫细胞和两个簇。在DRGs、免疫细胞群、生物过程和通路行为方面,两个群体存在显著差异。此外,在DRGs、免疫细胞、生物学功能和通路活性方面,两种簇间存在显著差异。为了帮助临床程序的实际应用,创建了一种线图。支持向量机模型在区分不同类型COPD患者方面效果最好。然后,我们通过SVM模型识别出前5个基因作为预测基因。与该模型相关的这五个基因与COPD患者的特征密切相关。结论:我们的研究证明了双翘与COPD之间的关系,并建立了一个最佳的机器学习模型来评估COPD的亚型和特征。DRGs可作为未来COPD预测性诊断、针对性预防和个体化治疗的目标,促进疾病管理从反应性医疗服务向PPPM的转变。
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来源期刊
BMC Medical Genomics
BMC Medical Genomics 医学-遗传学
CiteScore
3.90
自引率
0.00%
发文量
243
审稿时长
3.5 months
期刊介绍: BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
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