Bibliometric analysis reveals the knowledge structure and emerging trends of eQTL research in colorectal cancer

Colorectal cancer (CRC) is a heterogeneous malignancy characterized by complex genetic, molecular, and regulatory mechanisms. Expression quantitative trait loci (eQTLs), which link genetic variants to gene-expression regulation, provide a functional framework for interpreting non-coding risk loci, identifying candidate regulatory genes, and facilitating precision oncology. However, the global research landscape, knowledge structure, and translational trajectory of eQTL-related CRC research have not been systematically characterized. Publications on eQTLs in CRC published between 2009 and 2025 were retrieved from the Web of Science Core Collection (WoSCC) database. Only English-language articles and reviews were included. The data were analyzed quantitatively and qualitatively using CiteSpace, VOSviewer, and the Bibliometrix R package. In addition, the included publications were systematically classified according to their position along the discovery-to-translation continuum, thereby constructing a translational evidence framework for eQTL-related CRC research. A total of 122 eligible publications were included in the final analysis. Annual publication output showed a fluctuating but overall upward trend, with marked growth after 2020. China was the most productive country, whereas the United States showed the strongest international collaboration strength. Co-citation, keyword, conceptual structure, and thematic evolution analyses indicated that this field has evolved from genome-wide association study (GWAS)-driven susceptibility-locus discovery to eQTL-based functional annotation and causal inference linking gene expression to CRC risk. The translational evidence map further showed that multi-omics integration involving eQTLs, methylation, proteomics, and single-cell data has promoted the discovery and clinical validation of CRC prognostic biomarkers, immunotherapy-related targets, and therapeutic drug targets, making individualized treatment decision-making a key theme and emerging frontier in this field. This study provides insights into global collaboration patterns, research hotspots, emerging frontiers, and the translational evidence landscape of eQTL-related CRC research, thereby establishing an essential foundation for understanding CRC regulatory genetics and facilitating future translational studies.