Epigenetics in the primary biliary cholangitis and primary sclerosing cholangitis
Open accessAbstract
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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PBC arises from a combination of genetic susceptibility and environmental triggers.
“The etiology of PBC is thought to be due to a combination of genetic risk factors and environmental triggers.(5)(6)(7)”
From Primary Biliary Cholangitis: 2018 Practice Guidance from the American Association for the Study of Liver Diseases (2019) · cites this paper as [6]
PBC arises from a combination of genetic susceptibility and environmental triggers.
“The etiology of PBC is thought to be due to a combination of genetic risk factors and environmental triggers.(5)(6)(7)”
From Primary Biliary Cholangitis: 2018 Practice Guidance from the American Association for the Study of Liver Diseases (2019) · cites this paper as [7]
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Self-citation
- Authors
- Cheung, A., LaRusso, N., Gores, G., & Lazaridis, K.
- Affiliations
- Mayo Clinic (US)
- Corresponding author
- Lazaridis, Konstantinos
- Venue
- Seminars in Liver Disease
- Publisher
- Georg Thieme Verlag KG
- Published
- 2017-05
- Volume
- 37
- Issue
- 02
- Pages
- 159-174
- ISSN
- 0272-8087 (ISSN-L)
- 1098-8971
- PMC
- PMC5553635
- 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
- green
- www.ncbi.nlm.nih.gov
- 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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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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