Gene expression profiling reveals upregulated FUT1 and MYBPC1 in children with pancreaticobiliary maljunction

Abstract

Pancreaticobiliary maljunction (PBM) is associated with high risk of epithelial atypical growth and malignant transformation of the bile duct or gallbladder. However, overall changes in genetic expression have not been examined in children with PBM. Genome-wide expression was analyzed using peripheral blood samples from 10 children with PBM and 15 pediatric controls. Differentially expressed genes (DEGs) were identified using microarray. Bioinformatics analysis was conducted using Gene Ontology and KEGG analyses. The top 5 in the up-regulated genes in PBM were verified with qRT-PCR. Receiver operator characteristic curve analysis was conducted to evaluate the predictive accuracy of selected genes for PBM. The microarray experiments identified a total of 876 DEGs in PBM, among which 530 were up-regulated and the remaining 346 were down-regulated. Verification of the top 5 up-regulated genes ( TYMS , MYBPC1 , FUT1 , XAGE2 , and GREB1L ) by qRT-PCR confirmed the up-regulation of MYBPC1 and FUT1 . Receiver operating characteristic curve analysis suggested that FUT1 and MYBPC1 up-regulation could be used to predict PBM, with the area under the curve of 0.873 (95%CI=0.735−1.000) and 0.960 (95%CI=0.891−1.000), respectively. FUT1 and MYBPC1 were up-regulated in children with PBM, and could be used as potential biomarkers for PBM.

Expression of lncRNAs in children with pancreaticobiliary maljunction: functional analysis and potential biomarkers

“…We found that 5 cis-target genes were related to differentially expressed lncRNAs, and that most lncRNAs acted in a trans manner. For example, we found that one lncRNA (NR_027038.1) was closely associated with E2F4, which is consistent with previous reports linking E2F4 to development and progression of cancers [27,28].…”

LncRNA expression profile, functional analysis and potential biomarkers in children with pancreaticobiliary maljunction

“…Kaneko et al identi ed several downregulated genes in the gallbladder of children with PBM which may contribute to the pathophysiology and found some upregulated noncoding RNAs that may be important for biliary carcinogenesis [23]. In our previous study [24], we found 876 differentially expressed genes in children with PBM, of which 530 genes were up-regulated and 346 genes were down-regulated. Wong et al identi ed 21 damaging de novo variants (DNV) in 31 cases with CDD, 6 DNV-carrying genes associated with human developmental disorders and 4 DNVcarrying genes linked with cholangio-and hepatocellular carcinomas [25].…”

Clinical Characteristics of Paediatric Pancreatitis Caused by Pancreaticobiliary Malformation: A Single-Centre Retrospective Analysis

“…Such as, only a very small number of recurrent pancreatitis completes genetic testing, so it is not counted in this article. And the genetic testing is important for the diagnosis of PBM, Guo et al (6) reparted that FUT1 and MYBPC1 may be potential biomarkers for PBM. Su et al (7) reported that pancreaticobiliary structural anomalies account for 28% of cases of RAP.…”