Cited by 37Liver Diseases and ImmunityEpigenetics and DNA MethylationPediatric Hepatobiliary Diseases and Treatments

Epigenetics in the primary biliary cholangitis and primary sclerosing cholangitis

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Cheung, Angela, LaRusso, Nicholas, Gores, Gregory, Lazaridis, Konstantinos·2017·Seminars in Liver Disease

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.

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Authors
Cheung, A., LaRusso, N., Gores, G., & Lazaridis, K.
Affiliations
Mayo Clinic (US)
Corresponding author
Lazaridis, Konstantinos
Venue
Seminars in Liver Disease
Published
2017-05
Volume
37
Issue
02
Pages
159-174
ISSN
  • 0272-8087 (ISSN-L)
  • 1098-8971
OpenAlex
W2617362445
Cited by
37
References
137
Citations by year
2026: 3 · 2025: 4 · 2024: 2 · 2023: 3 · 2022: 4 · 2021: 1 · 2020: 8 · 2019: 8 · 2018: 3 · 2017: 1
FWCI
3.38
Type
journal article
Language
en
Open access
Locations
  • Seminars in Liver Disease (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
  • National Institute of Diabetes and Digestive and Kidney Diseases (R01DK080670, R01DK063947, R01DK084960, P30DK084567, R01DK057993)
Topics
  • Health Sciences › Medicine › Hepatology › Liver Diseases and Immunity
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
  • Health Sciences › Medicine › Surgery › Pediatric Hepatobiliary Diseases and Treatments
Keywords
epigenetics, primary biliary cirrhosis, primary sclerosing cholangitis, missing heritability, exposome, epigenomic biomarkers, pathogenesis, therapeutic target, cholestatic liver disease
MeSH terms
Animals, Genetic Markers, Histones, Humans, Liver Cirrhosis, Biliary, Pedigree, Phenotype, Risk Factors, Cholangitis, Sclerosing, DNA Methylation, Genetic Predisposition to Disease, RNA, Untranslated, Heredity, Chromatin Assembly and Disassembly, Epigenesis, Genetic, Genome-Wide Association Study

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