| Description |
Dysregulated RNA splicing is a post-transcriptional molecular feature that impacts tumor progression and prognosis. The role of alternative splicing in the development of non-small cell lung cancer (NSCLC) in Chinese population remains unclear. In this study, we examined the genetic regulation of splicing in 245 tumor and 297 normal lung tissue samples from Chinese NSCLC patients. We integrated the splicing data with a meta-analyzed genome-wide association study for NSCLC in East Asians (7,035 cases and 185,413 controls), identifying 14 novel NSCLC-associated splicing events (FDR < 0.05) through a splicing transcriptome-wide association study (spTWAS). We further conducted colocalization analysis, differential splicing analysis, putative splicing regulator prediction, and survival analysis, highlighting the potential role of splicing events in TP63, TPM1, and ILK in NSCLC. In conclusion, our study revealed the genetic architecture of splicing in lung tissues and suggested that splicing dysregulation significantly contributed to the carcinogenesis and prognosis of NSCLC. |
