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利用生物信息学和机器学习鉴定脓毒症中与DNA损伤修复相关的基因:一项观察性研究

Identification of DNA damage repair-related genes in sepsis using bioinformatics and machine learning: An observational study.

作者信息

Gu Jin, Wang Dong-Fang, Lou Jian-Ying

机构信息

Department of Hepatobiliary and Pancreatic Surgery, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Trauma Center/Department of Emergency and Traumatic Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

出版信息

Medicine (Baltimore). 2025 Jan 31;104(5):e41354. doi: 10.1097/MD.0000000000041354.

Abstract

Sepsis is a life-threatening disease with a high mortality rate, for which the pathogenetic mechanism still unclear. DNA damage repair (DDR) is essential for maintaining genome integrity. This study aimed to explore the role of DDR-related genes in the development of sepsis and further investigated their molecular subtypes to enrich potential diagnostic biomarkers. Two Gene Expression Omnibus datasets (GSE65682 and GSE95233) were implemented to investigate the underlying role of DDR-related genes in sepsis. Three machine learning algorithms were utilized to identify the optimal feature genes. The diagnostic value of the selected genes was evaluated using the receiver operating characteristic curves. A nomogram was built to assess the diagnostic ability of the selected genes via "rms" package. Consensus clustering was subsequently performed to identify the molecular subtypes for sepsis. Furthermore, CIBERSORT was used to evaluate the immune cell infiltration of samples. Three different expressed DDR-related genes (GADD45A, HMGB2, and RPS27L) were identified as sepsis biomarkers. Receiver operating characteristic curves revealed that all 3 genes showed good diagnostic value. The nomogram including these 3 genes also exhibited good diagnostic efficiency. A notable difference in the immune microenvironment landscape was discovered between sepsis patients and healthy controls. Furthermore, all 3 genes were significantly associated with various immune cells. Our findings identify potential new diagnostic markers for sepsis that shed light on novel pathogenetic mechanism of sepsis and, therefore, may offer opportunities for potential intervention and treatment strategies.

摘要

脓毒症是一种威胁生命的疾病,死亡率很高,其发病机制尚不清楚。DNA损伤修复(DDR)对于维持基因组完整性至关重要。本研究旨在探讨DDR相关基因在脓毒症发生发展中的作用,并进一步研究其分子亚型,以丰富潜在的诊断生物标志物。利用两个基因表达综合数据集(GSE65682和GSE95233)来研究DDR相关基因在脓毒症中的潜在作用。采用三种机器学习算法来识别最佳特征基因。使用受试者工作特征曲线评估所选基因的诊断价值。通过“rms”软件包构建列线图,以评估所选基因的诊断能力。随后进行一致性聚类以识别脓毒症的分子亚型。此外,使用CIBERSORT评估样本的免疫细胞浸润情况。鉴定出三个差异表达的DDR相关基因(GADD45A、HMGB2和RPS27L)作为脓毒症生物标志物。受试者工作特征曲线显示,这三个基因均具有良好的诊断价值。包含这三个基因的列线图也显示出良好的诊断效率。脓毒症患者与健康对照之间的免疫微环境格局存在显著差异。此外,这三个基因均与多种免疫细胞显著相关。我们的研究结果确定了脓毒症潜在的新诊断标志物,揭示了脓毒症新的发病机制,因此可能为潜在的干预和治疗策略提供机会。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/864d/11789855/8e08b469feca/medi-104-e41354-g001.jpg

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