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The Bioinformatic Study Uncovers Probable Critical Genes Involved in the Pathophysiology of Biliary Atresia
Si Chen1, Songli Wu2, Mingman Zhang1
1Children's Hospital of Chongqing Medical University, China.
Insights
This study identified 10 key genes involved in biliary atresia (BA) pathogenesis using bioinformatics. These findings offer insights into the underlying mechanisms of this infant liver disease.
Area of Science:
- Pediatric Gastroenterology
- Hepatology
- Molecular Biology
Background:
- Biliary atresia (BA) is a rare but serious infant liver disease causing bile duct obstruction.
- Untreated BA leads to cholestasis, hyperbilirubinemia, cirrhosis, and liver failure.
- The complex etiology and developmental mechanisms of BA remain largely unknown.
Purpose of the Study:
- To identify critical genes implicated in the pathophysiology of biliary atresia.
- To elucidate the molecular mechanisms driving BA development.
Main Methods:
- Utilized Gene Expression Omnibus (GEO) dataset GSE46960 for differential gene expression analysis.
- Performed functional enrichment, Gene Ontology (GO), KEGG pathway, and protein-protein interaction (PPI) network analyses.
- Included data from 64 BA newborns, 14 infants with intrahepatic cholestasis, and 7 controls.
Main Results:
- Identified 22 differentially expressed genes (DEGs) in BA.
- KEGG analysis revealed pathways linked to inflammation and fibrosis in BA.
- PPI analysis highlighted SERPINE1, THBS1, CCL2, MMP7, CXCL8, EPCAM, VCAN, ITGA2, AREG, and HAS2 as potentially significant in BA pathogenesis.
Conclusions:
- Bioinformatic analysis identified 10 hub genes potentially critical to BA.
- These findings provide insights into the probable mechanisms underlying biliary atresia.
Background:
Biliary atresia (BA) is an uncommon illness that causes the bile ducts outside and within the liver to become clogged in babies. If left untreated, the cholestasis causes increasing conjugated hyperbilirubinemia, cirrhosis, and hepatic failure. BA has a complicated aetiology, and the mechanisms that drive its development are unknown. The objective of this study was to show the role of probable critical genes involved in the pathophysiology of biliary atresia.
Methods:
We utilised the public Gene Expression Omnibus (GEO) microarray expression profiling dataset GSE46960 to find differentially expressed genes (DEGs) in 64 biliary atresia newborns, 14 infants with various causes of intrahepatic cholestasis, and 7 deceased-donor children as control subjects in our study. The relevant information was looked into. The important modules were identified after functional enrichment, GO and KEGG pathway analyses, protein-protein interaction (PPI) network analyses, and GSEA analysis.
Results:
The differential expression analysis revealed a total of 22 elevated genes. To further understand the biological activities of the DEGs, we run functional enrichment analyses on them. Meanwhile, KEGG analysis has revealed significant enrichment of pathways involved in activating cross-talking with inflammation and fibrosis in BA. SERPINE1, THBS1, CCL2, MMP7, CXCL8, EPCAM, VCAN, ITGA2, AREG, and HAS2, which may play a significant regulatory role in the pathogenesis of BA, were identified by PPI studies.
Conclusion:
Our findings suggested 10 hub genes and probable mechanisms of BA in the current study through bioinformatic analysis.
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