Molecular characteristics of choledochal cysts in children: transcriptome sequencing

Choledochal cysts (CC) is a common congenital biliary disease in children, yet the underlying molecular bases for the cystic and fusiform clinical subtypes are unknown. Methods: RNA-seq has been performed on 22 high-quality CC samples, including 12 cystic CC and 10 fusiform CC samples, to search for molecular features. Weighted gene co-expression network analysis (WGCNA) was performed to identify key modules associated with clinical subtypes. Bioinformatics analysis were conducted to elucidate potential mechanisms. Then, we constructed protein–protein interaction (PPI) network to identify candidate hub genes related to CC. Finally, we used the support vector machine (SVM) to eliminate redundant features and screen out the hub genes. The hub gene expression was determined in CC patients through quantitative real-time PCR. Results: For the first time, we have described the transcriptome characteristics of CC. These results suggest that cystic CC and fusiform CC have different molecular mechanisms. The bi-omics identified novel candidate genes and pathways might be helpful for personalized treatment and are of great clinical significance for CC. RNA sequencing of 12 cystic choledochal cysts and 10 fusiform choledochal cysts samples.