Genomic DNA methylation profile in peripheral blood of children with congenital biliary dilatation
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Published on: June 16, 2017
Chenyao Wang1, Yuelan Zheng1, Yan Wang1
1Department of Hepatobiliary Tumor Surgery, Shen Zhen Children's Hospital, Shenzhen, Guangdong, China.
Insights
This study reveals significant DNA methylation changes in the blood of children with congenital biliary dilatation (CBD), highlighting immune pathway involvement. These epigenetic alterations offer potential new diagnostic markers for this childhood liver disease.
Area of Science:
- Pediatric Gastroenterology
- Epigenetics
- Genomics
Background:
- Congenital biliary dilatation (CBD) is a common childhood liver condition, especially in Asia, with unknown causes.
- Understanding the epigenetic factors in CBD pathogenesis is crucial for developing effective treatments.
Purpose of the Study:
- To investigate genome-wide DNA methylation profiles in peripheral blood of children with CBD.
- To identify potential epigenetic mechanisms contributing to CBD development.
Main Methods:
- Compared genome-wide DNA methylation using Illumina MethylationEPIC BeadChip in 37 children with CBD and 24 controls.
- Performed bioinformatic analysis to identify differentially methylated positions (DMPs) and regions (DMRs).
Main Results:
- Identified 24,230 differentially methylated sites across 5,863 genes, with more hypomethylated than hypermethylated sites.
- Detected 54 significant differentially methylated regions (DMRs).
- Found enrichment in immune-related pathways, notably the T cell receptor signaling pathway.
Conclusions:
- This is the first comprehensive genome-wide DNA methylation analysis in CBD.
- Aberrant DNA methylation in immune-related genes suggests a role in CBD pathogenesis.
- Epigenetic findings may lead to novel diagnostic biomarkers for congenital biliary dilatation.
Background:
Congenital biliary dilatation (CBD) is a prevalent congenital biliary disease in children, particularly in Asian populations, yet its etiology remains poorly understood. This study aimed to investigate the genome-wide DNA methylation profile in the peripheral blood of children with CBD to identify potential epigenetic mechanisms involved in its pathogenesis.
Methods:
Genome-wide DNA methylation profiles were compared between whole blood samples from 37 children with CBD and 24 healthy controls using the Illumina Infinium Human MethylationEPIC (850 K) BeadChip. Bioinformatic analyses were performed to identify differentially methylated positions (DMPs) and regions (DMRs), and functional enrichment analysis was conducted on associated genes.
Results:
We identified 24,230 differentially methylated sites associated with 5,863 genes. Among these, 8,313 sites were hypermethylated and 15,917 were hypomethylated in CBD patients compared to controls. 54 significant differentially methylated regions (DMRs) were also detected. Functional enrichment analysis revealed that the differentially methylated genes were significantly enriched in key biological pathways, most notably the T cell receptor signaling pathway.
Conclusion:
This study presents the first comprehensive analysis of genome-wide DNA methylation in CBD, revealing significant epigenetic alterations in peripheral blood. These findings suggest that aberrant DNA methylation, particularly in genes regulating immune pathways, may play a critical role in the development of CBD and could provide valuable insights for identifying novel diagnostic biomarkers.
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