Genetics of Primary Biliary Cholangitis
Abstract
Primary biliary cholangitis (PBC) is a rare disease of the liver characterized by an autoimmune attack on the small bile ducts. PBC is a complex trait, meaning that a large list of genetic factors interacts with environmental agents to determine its onset. Genome-wide association studies have had a huge impact in fostering research in PBC, but many steps need still to be done compared with other autoimmune diseases of similar prevalence. This review presents the state-of-the-art regarding the genetic architecture of PBC and provides some thoughtful reflections about possible future lines of research, which can be helpful to fill the missing heritability gap in PBC.
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Although HLA alleles exhibit the strongest association with primary biliary cholangitis, their contribution to disease risk is less than that of other autoimmune diseases.
“Although HLA alleles exhibit the strongest association with primary biliary cholangitis, their contribution to disease risk is less than that of other autoimmune diseases.12”
From Primary biliary cholangitis. (2024) · cites this paper as [12]
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References 67 · Cited by 18
- Authors
- Gerussi, A., Asselta, R., & Invernizzi, P.
- Affiliations
- Azienda Ospedaliera San Gerardo (IT)
- Humanitas University (IT)
- Venue
- Clinics in Liver Disease
- Publisher
- Elsevier BV
- Published
- 2022-11
- Volume
- 26
- Issue
- 4
- Pages
- 571-582
- ISSN
- 1089-3261 (ISSN-L)
- OpenAlex
- W4295202946
- Cited by
- 18
- References
- 67
- Citations by year
- 2026: 3 · 2025: 11 · 2024: 2 · 2023: 1 · 2022: 1
- FWCI
- 0.64
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- Clinics in Liver Disease (publishedVersion)
- PubMed (publishedVersion)
- BOA (University of Milano-Bicocca) (submittedVersion)
- Topics
- Health Sciences › Medicine › Hepatology › Liver Diseases and Immunity
- Health Sciences › Medicine › Surgery › Pediatric Hepatobiliary Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- primary biliary cirrhosis, genetic architecture, genome-wide association study, autoimmune liver disease, bile ducts, genetic susceptibility, missing heritability, complex traits, environmental factors
- MeSH terms
- Autoimmune Diseases, Humans, Liver Cirrhosis, Biliary, Genome-Wide Association Study
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