This study unveils 15 risk genes as potential pathogenic and therapeutic biomarkers for DLBCL and provides novel insights and targets for understanding the pathogenesis, diagnosis, and treatment of DLBCL.
Abstract
Background
Diffuse large B-cell lymphoma (DLBCL) presents a complex etiology and challenging diagnosis. This study aims to investigate potential pathogenic genes.
Methods
We identified DLBCL risk genes (DRGs) through expression quantitative trait loci-Mendelian randomization (eQTL-MR). Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses were conducted to explore biological functions. Single-cell RNA sequencing (scRNA-seq) data were analyzed to delineate the subcellular localization. Immune infiltration analyses examined the role of genes in the DLBCL immune microenvironment. Finally, drug sensitivity analyses were performed to predict potentially sensitive drugs.
Results
Following eQTL-MR and prognostic analyses, we identified 15 genes associated with both the pathogenesis and prognosis of DLBCL. These genes were successfully integrated into a risk gene model, achieving an Area Under the Curve (AUC) of 0.787. GO and KEGG enrichment analyses of genes localized significant pathways, including NF-κB signal transduction. ScRNA-seq analysis suggested that DRGs may be linked to the immune microenvironment of DLBCL. Further immune infiltration analysis confirmed the pivotal role of immune infiltration in the malignant progression of DLBCL.
Conclusion
This study unveils 15 risk genes as potential pathogenic and therapeutic biomarkers for DLBCL. These findings provide novel insights and targets for understanding the pathogenesis, diagnosis, and treatment of DLBCL.
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BACKGROUND
Burkitt lymphoma (BL) is a highly aggressive malignancy with limited effective treatments due to toxicity/resistance. Identifying and prioritizing candidate biomarkers and potential therapeutic targets from complex transcriptomic data, ahead of functional validation, remains a major unmet need.
METHODS
We...