Genome-wide resolution peripheral blood methylome profiling reveals signatures for cholestatic liver disease

Raymond M. Moore, Zhifu Sun, Brian D. Juran, Konstantinos N. Lazaridis

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1363-1375
Number of pages13
JournalEpigenomics
Volume12
Issue number16
DOIs
StatePublished - Aug 2020

Keywords

  • differentially methylated CpG
  • differentially methylated region
  • methylation biomarker
  • peripheral blood
  • primary biliary cholangitis
  • primary sclerosing cholangitis
  • reduced representation bisulfite sequencing

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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