ReviewClinical reviews in allergy & immunology2015
Genetics in PSC: what do the "risk genes" teach us?
Review in Clinical reviews in allergy & immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Unraveling the Converging Roles of ASC-Dependent Inflammasomes, Interleukin-1 Superfamily Members, Serum Amyloid A, and Non-Sterile Inflammation in Disease Pathology and Fibrosis in Inflammatory Bowel Disease and Primary Sclerosing Cholangitis.International journal of molecular sciences · 2025Review
- Distinct metabolomic and lipidomic profiles in serum samples of patients with primary sclerosing cholangitis.Frontiers in medicine · 2024Article
- Primary Sclerosing Cholangitis-Associated Cholangiocarcinoma: From Pathogenesis to Diagnostic and Surveillance Strategies.Cancers · 2023Review
- Colectomy in patients with ulcerative colitis is not associated to future diagnosis of primary sclerosing cholangitis.United European gastroenterology journal · 2023Article
- Selected Aspects of the Intricate Background of Immune-Related Cholangiopathies-A Critical Overview.Nutrients · 2023Review
- Genome-wide resolution peripheral blood methylome profiling reveals signatures for cholestatic liver disease.Epigenomics · 2020Article
- Cholangiocarcinoma in Patients with Primary Sclerosing Cholangitis (PSC): a Comprehensive Review.Clinical reviews in allergy & immunology · 2020Review
- Th1 and Innate Lymphoid Cells Accumulate in Primary Sclerosing Cholangitis-associated Inflammatory Bowel Disease.Journal of Crohn's & colitis · 2017Article
- [Chronic cholestatic liver diseases : Differential diagnosis, pathogenesis and current treatment in adults].Der Internist · 2017Review
- Elevated trimethylamine-United European gastroenterology journal · 2017Article
- Genetics of primary sclerosing cholangitis and pathophysiological implications.Nature reviews. Gastroenterology & hepatology · 2017Review
- The gut microbiota contributes to a mouse model of spontaneous bile duct inflammation.Journal of hepatology · 2017Article
- Serum microRNAs as novel biomarkers for primary sclerosing cholangitis and cholangiocarcinoma.Clinical and experimental immunology · 2016Article
- Epigenetics and Primary Biliary Cirrhosis: a Comprehensive Review and Implications for Autoimmunity.Clinical reviews in allergy & immunology · 2016Review
- The Immunogenetics of Autoimmune Cholestasis.Clinics in liver disease · 2016Review
- Functional and structural features of cholangiocytes in health and disease.Cellular and molecular gastroenterology and hepatology · 2015Article
- Unmet challenges in immune-mediated hepatobiliary diseases.Clinical reviews in allergy & immunology · 2015Article
- Primary Biliary Cirrhosis and Primary Sclerosing Cholangitis: a Review Featuring a Women's Health Perspective.Journal of clinical and translational hepatology · 2014Review
- All you need to know about the overlap between primary sclerosing cholangitis and inflammatory bowel disease.Annals of gastroenterologyReview
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A role of genetics in primary sclerosing cholangitis (PSC) development is now firmly established. A total of 16 risk genes have been reported at highly robust ("genome-wide") significance levels, and ongoing efforts suggest that the list will ultimately be considerably longer. Importantly, this genetic risk pool so far accounts for less than 10 % of an estimated overall PSC susceptibility. The relative importance of genetic versus environmental factors (including gene-gene and gene-environment interactions) in remaining aspects of PSC pathogenesis is unknown, and other study designs than genome-wide association studies are needed to explore these aspects. For some of the loci, e.g. HLA and FUT2, distinct interacting environmental factors may exist, and working from the genetic associations may prove one valid path for determining the specific nature of environmental triggers. So far the biological implications for PSC risk genes are typically merely hypothesized based on previously published literature, and there is therefore a strong need for dedicated translational studies to determine their roles within the specific disease context of PSC. Apparently, most risk loci seem to involve in a subset of biological pathways for which genetic associations exist in a multitude of immune-mediated diseases, accounting for both inflammatory bowel disease as well as prototypical autoimmunity. In the present article, we will survey the current knowledge on PSC genetics with a particular emphasis on the pathophysiological insight potentially gained from genetic risk loci involving in this profound immunogenetic pleiotropy.
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