Open AccessGenome-wide resolution peripheral blood methylome profiling reveals signatures for cholestatic liver disease
Author(s) -
Raymond M. Moore,
Zhifu Sun,
Brian D. Juran,
Konstantinos N. Lazaridis
Publication year - 2020
Publication title -
epigenomics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.265
H-Index - 60
eISSN - 1750-1911
pISSN - 1750-192X
DOI - 10.2217/epi-2020-0048
Subject(s) - biology , dna methylation , differentially methylated regions , primary sclerosing cholangitis , cpg site , methylation , bisulfite sequencing , epigenetics , inflammatory bowel disease , genetics , disease , gene , medicine , gene expression
Aim: To profile DNA methylation changes of primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC). Materials & methods: Patients with: PBC, PSC with inflammatory bowel disease (IBD), PSC without IBD, and age-, sex-matched controls were profiled for methylomes of peripheral blood by reduced representation bisulfite sequencing. Differentially methylated CpG (DMC) and differentially methylated region (DMR) were detected and compared. Results: We identified consistently altered DMCs and DMRs across diseases with involvement in key pathways. Many similarities noted between two subtypes of PSC, interestingly few existed between PBC and PSC. DMRs were highly enriched with transcription factor binding. Top DMC changes were validated in liver tissue of an independent cohort. Conclusion: Methylome profiling provides insights to PBC and PSC.