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基于机器学习算法的扩张型心肌病关键基因选择及诊断准确性评估

Selection of key genes for dilated cardiomyopathy based on machine learning algorithms and assessment of diagnostic accuracy.

作者信息

Chen Tingting, Xuan Xiulin, Ni Jiajia, Jiang Shuyin

机构信息

Department of Cardiovascular Medicine, Hangzhou First People's Hospital, Affiliated to Zhejiang University School of Medicine, Hangzhou, China.

Department of Gastroenterology, Hangzhou First People's Hospital, Affiliated to Zhejiang University School of Medicine, Hangzhou, China.

出版信息

J Thorac Dis. 2023 Aug 31;15(8):4445-4455. doi: 10.21037/jtd-23-1086. Epub 2023 Aug 23.

Abstract

BACKGROUND

The mechanisms of the occurrence and progression of dilated cardiomyopathy are still unclear and further exploration is needed. The upgrading of programming languages and the improvement of biological databases have created conditions for us to explore the structural and functional information of biological molecules at the nucleic acid and protein levels, screen key pathogenic genes, and elucidate pathogenic mechanisms. This study aimed to screen key pathogenic genes using machine learning algorithms and explore the correlation between key genes and immune microenvironment through transcriptome sequencing data sets of myocardial samples from patients with dilated cardiomyopathy, providing new ideas for elucidating the pathogenesis of the disease.

METHODS

The transcriptome sequencing data sets of heart tissue from patients with dilated cardiomyopathy were downloaded from the Gene Expression Omnibus (GEO) database (GSE29819 and GSE21610). Differentially expressed genes (DEGs) were screened between pathological and normal tissues. The key genes were screened using least absolute shrinkage and selection operator (LASSO) regression analysis and random forest tree algorithms. The diagnostic efficiency of the key genes for the disease was evaluated using the receiver operating characteristic (ROC) curve.

RESULTS

Compared with the normal heart tissue (control group) samples, there were 213 DEGs in the heart tissue samples of patients with dilated cardiomyopathy (treat group), including 101 upregulated and 102 downregulated genes. and were highly expressed in the treat group compared to the control group. The ROC curve showed that the areas under the curve (AUCs) of and were 0.821 and 0.902, respectively (P<0.05). In the treat group samples, was positively correlated with the infiltration content of most immune cell subtypes.

CONCLUSIONS

and are key disease-causing genes in dilated cardiomyopathy and have good diagnostic efficiency for the disease. and may be related to immune cell enrichment and myocardial fibrosis, respectively.

摘要

背景

扩张型心肌病的发生发展机制尚不清楚,仍需进一步探索。编程语言的升级和生物数据库的完善为我们在核酸和蛋白质水平探索生物分子的结构和功能信息、筛选关键致病基因以及阐明致病机制创造了条件。本研究旨在利用机器学习算法筛选关键致病基因,并通过扩张型心肌病患者心肌样本的转录组测序数据集探索关键基因与免疫微环境之间的相关性,为阐明该疾病的发病机制提供新思路。

方法

从基因表达综合数据库(GEO)(GSE29819和GSE21610)下载扩张型心肌病患者心脏组织的转录组测序数据集。筛选病理组织和正常组织之间的差异表达基因(DEG)。使用最小绝对收缩和选择算子(LASSO)回归分析和随机森林树算法筛选关键基因。使用受试者工作特征(ROC)曲线评估关键基因对该疾病的诊断效率。

结果

与正常心脏组织(对照组)样本相比,扩张型心肌病患者(治疗组)心脏组织样本中有213个DEG,包括101个上调基因和102个下调基因。与对照组相比,[基因名称1]和[基因名称2]在治疗组中高表达。ROC曲线显示,[基因名称1]和[基因名称2]的曲线下面积(AUC)分别为0.821和0.902(P<0.05)。在治疗组样本中,[基因名称1]与大多数免疫细胞亚型的浸润含量呈正相关。

结论

[基因名称1]和[基因名称2]是扩张型心肌病的关键致病基因,对该疾病具有良好的诊断效率。[基因名称1]和[基因名称2]可能分别与免疫细胞富集和心肌纤维化有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df5c/10482651/2637a109350f/jtd-15-08-4445-f1.jpg

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