Genetic Variants in EMT-Related lncRNAs Modulate the Risk of Colorectal Cancer in the Chinese Population

Epithelial-mesenchymal transition (EMT) is critical in tumor progression and metastasis, with long non-coding RNAs (lncRNAs) as key regulatory elements. This study explored the association between genetic variants in EMT-related lncRNAs and colorectal cancer (CRC) risk in a Chinese population. A case-control study was conducted involving 1,888 untreated CRC cases and 1,888 cancer-free controls. Multivariate logistic regression models were used to assess effects of SNPs on CRC risk, while expression quantitative trait loci (eQTL) analysis used data from the Genotype-Tissue Expression (GTEx) project, and gene expression was evaluated using The Cancer Genome Atlas (TCGA) database. Four functionally relevant SNPs (AC106786.1 rs76180806, rs2277930, LINC00578 rs28711160, and RP1-193H18.2 rs17823238) were significantly associated with CRC risk (OR = 1.52, 95% CI = 1.26-1.83, P = 1.57 × 10 ^- 2; OR = 1.34, 95% CI = 1.15-1.57, P = 3.30 × 10 ^- 2; OR = 1.21, 95% CI = 1.09-1.33, P = 3.30 × 10 ^- 2; OR = 0.83, 95% CI = 0.75-0.92, P = 3.30 × 10 ^- 2). Notably, rs28711160 exhibited a significant eQTL effect on LINC00578 expression (P = 2.09 × 10^- 5), and LINC00578 expression levels correlated strongly with CRC risk. These findings indicate that genetic variants in EMT-related lncRNAs (AC106786.1, LINC00578, RP1-193H18.2) may contribute to CRC susceptibility and could serve as candidate biomarkers, providing new insights into the genetic architecture of CRC.