Epigenetics in the Primary Biliary Cholangitis and Primary Sclerosing Cholangitis

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Epigenomics, the study of modifications to genetic material that do not alter the underlying DNA sequence, is generating increasing interest as a means to help clarify disease pathogenesis and outcomes. Although genome-wide association studies have identified several potential candidate genes that may be implicated in primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC), it is estimated that these genes explain less than 20% of the heritability of these diseases. Thus, to date, the origins of missing heritability for PBC and PSC remain elusive. The epigenome may provide a potentially elegant solution to this phenomenon, as it can be modified by both internal and external exposures (coined the exposome). This may explain differences in disease presentation, treatment response, and rates of progression between individuals. Epigenetic changes may also provide a framework for discovering potential biomarkers for diagnosis and screening of PBC and PSC. Importantly, because the epigenome is modifiable, it may also highlight novel pathways for therapeutic discovery and interventions of these diseases.

Original languageEnglish (US)
Pages (from-to)159-174
Number of pages16
JournalSeminars in Liver Disease
Volume37
Issue number2
DOIs
StatePublished - May 1 2017

Fingerprint

Sclerosing Cholangitis
Cholangitis
Epigenomics
Genes
Genome-Wide Association Study
Biomarkers
Therapeutics

Keywords

  • cholestatic liver disease
  • epigenetics
  • primary biliary cholangitis
  • primary sclerosing cholangitis

ASJC Scopus subject areas

  • Hepatology

Cite this

Epigenetics in the Primary Biliary Cholangitis and Primary Sclerosing Cholangitis. / Cheung, Angela C.; La Russo, Nicholas F; Gores, Gregory James; Lazaridis, Konstantinos N.

In: Seminars in Liver Disease, Vol. 37, No. 2, 01.05.2017, p. 159-174.

Research output: Contribution to journalArticle

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