Genomic DNA methylation profile in peripheral blood of children with Congenital biliary dilatation

Congenital biliary dilatation (CBD) is a relatively rare biliary tract disease. It is a prevalent congenital biliary disease in children. CBD mainly affects in infants and children, with a higher prevalence in females. To investigate the DNA methylation patterns in children with CBD and in healthy children, we performed a comparative analysis of the genome‐wide DNA methylation profiles of whole blood samples from patients with CBD child and from healthy children using the Illumina Infinium Human Methylation 850k BeadChip. Bioinformatics statistical analysis revealed that 5,863 genes with differential DNA methylation between the two groups correlated to a total of 24,230 methylated sites.Of these differential methylation sites, 831,3 were hypermethylated and 15,917 were hypomethylated in comparison to the methylation status of those sites in the control samples. Differentially methylated regions (DMRs) between the CBD cases and the control group was significant difference in DMR_1~DMR_54. Furthermore, T cell receptor signaling pathways represented accounted for an important percentage of the differentially methylated genes. Abnormalities in the DNA methylation pattern identified in the peripheral blood of CBD patients may play an important role in the development of CBD and warrant further investigation. This study aims to investigate the DNA methylation patterns in a specific population. Samples were derived from peripheral blood cells collected from consenting adult volunteers. DNA was extracted and prepared for high-throughput methylation analysis using the Illumina Infinium MethylationEPIC BeadChip platform. Sequencing was performed on the Illumina Infinium platform, with raw data (.idat format) preprocessed using Illumina's Methylation Module and further analyzed with custom scripts.