Observational study on the molecular mechanism and experimental verification of m6A RNA methylation modification related genes in venous thromboembolism

静脉血栓栓塞中m6A RNA甲基化修饰相关基因的分子机制观察研究及实验验证

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Abstract

Venous thromboembolism (VTE) is a prevalent cardiovascular disorder globally. Although current research has established the intricate role of N(6)-methyladenosine (m6A) RNA methylation in various diseases, its association with VTE remains unclear. This study investigated the potential molecular mechanisms of m6A-related genes in VTE to provide new theoretical insights for its treatment. We retrieved VTE-related datasets (GSE19151 and GSE48000) from public databases. Differentially expressed genes were identified through differential expression analysis, while key m6A-related module genes were determined using weighted gene co-expression network analysis. The top 10 genes from 6 algorithms in Cytoscape were intersected to identify candidate biomarkers, which were then validated through expression analysis in the GSE48000 dataset. Furthermore, these biomarkers underwent nomogram construction, functional enrichment analysis, immune infiltration analysis, and the development of a transcription factor (TF) regulatory network. Clinical validation was performed using reverse transcription-quantitative polymerase chain reaction. FAU (Finkel-Biskis-Reilly murine sarcoma virus [FBR-MuSV] ubiquitously expressed) and RPS18 were identified as biomarkers, with their expression significantly upregulated in the VTE group of the GSE19151 dataset (P < .05). Calibration curve results (P = .181) and the nomogram model demonstrated excellent predictive accuracy. Enrichment analysis revealed that both biomarkers were co-enriched in the tight junction and Wnt signaling pathways, among others. Immune infiltration analysis showed that FAU had the strongest positive correlation with naive CD4+ T cells, while RPS18 was most strongly correlated with activated memory CD4+ T cells. Additionally, 20 TFs in the TF regulatory network were found to regulate both FAU and RPS18. Reverse transcription-quantitative polymerase chain reaction results confirmed significant upregulation of FAU and RPS18 in the VTE group. This study identifies FAU and RPS18 as key biomarkers in the pathogenesis of VTE through comprehensive bioinformatics approaches, offering a novel avenue for VTE management.

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