ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1624671
This article is part of the Research TopicInsights in Genetics of Common and Rare Diseases 2024View all 24 articles
Research on biliary atresia and epigenetic factors from the perspective of transcriptomics: identification of key genes and experimental validation
Provisionally accepted
- Department of General Surgery, Kunming Children's Hospital, Kunming, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
Background: Biliary atresia (BA) is a severe pediatric liver disease. However, the role of epigenetic factors in its pathogenesis remains poorly understood. This study aimed to identify key genes associated with BA and epigenetic factors, as well as to explore potential therapeutic drugs, thereby offering new insights into the treatment of this condition. Methods: Transcriptomic datasets (training set GSE122340 and validation set GSE46960) were analyzed. The training set was used to identify differentially expressed genes (DEGs) between BA and normal samples. Candidate genes were selected by intersecting the DEGs with epigenetic factor-related genes. A protein-protein interaction (PPI) network was constructed, and key genes displaying consistent expression patterns across both datasets were identified. Localization, correlation, and Gene Set Enrichment Analysis (GSEA) of these key genes were performed. A molecular regulatory network was constructed, and drug predictions, along with molecular docking simulations, were conducted for the key genes.Experimental validation of the bioinformatics findings was carried out. Results: A total of 3462 DEGs were identified, from which 62 candidate genes were selected.Five key genes (AURKA, BUB1, CDK1, RAD51, TOP2A) were highlighted, all of which exhibited strong positive correlations and were linked to essential pathways, including the cell cycle. Thirteen potential drugs were identified, with three pairs showing strong binding affinities. RT-qPCR validation confirmed that, except for CDK1, AURKA, BUB1, RAD51, and TOP2A exhibited consistent trends with the bioinformatics analysis, and were significantly upregulated in the BA group.This study successfully identified key genes (AURKA, BUB1, CDK1, RAD51, TOP2A) and potential therapeutic drugs for BA, providing critical insights into its pathogenesis and offering potential avenues for novel treatment strategies.
Keywords: Biliary Atresia, epigenetic factors, bioinformatics, GEO, molecular docking
Received: 07 May 2025; Accepted: 03 Jul 2025.
Copyright: © 2025 Na, Yang, LI, Xiao, Hai, Li, Xie and Bai. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Qiang Bai, Department of General Surgery, Kunming Children's Hospital, Kunming, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.