ArticlePloS one2014
Refinement of the MHC risk map in a scandinavian primary sclerosing cholangitis population.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 31 citations in OpenAlex.
- Association of Primary Sclerosing Cholangitis With HLA-C*07:02 in a Japanese Population.Liver international : official journal of the International Association for the Study of the Liver · 2025Article
- T and B cell responses against Epstein-Barr virus in primary sclerosing cholangitis.Nature medicine · 2025Article
- Navigating Neoplasm Risk in Inflammatory Bowel Disease and Primary Sclerosing Cholangitis.Cancers · 2025Review
- Comparative analysis of ultrasound-guided percutaneous biopsy of native kidneys in children and adults using the free-flank supine antero-lateral decubitus positioning.Abdominal radiology (New York) · 2024Article
- Sex-Dependent Differences in Cholestasis: Why Estrogen Signaling May Be a Key Pathophysiological Driver.The American journal of pathology · 2023Review
- HLA Associations in pediatric autoimmune liver diseases: Current state and future research initiatives.Frontiers in immunology · 2022Review
- An update on treatment options for primary sclerosing cholangitis.Gastroenterology and hepatology from bed to bench · 2020Review
- HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry.HLA · 2017Article
- Genetics of primary sclerosing cholangitis and pathophysiological implications.Nature reviews. Gastroenterology & hepatology · 2017Review
- The Presence, Persistence and Functional Properties of Plasmodium vivax Duffy Binding Protein II Antibodies Are Influenced by HLA Class II Allelic Variants.PLoS neglected tropical diseases · 2016Article
- Primary Sclerosing Cholangitis.The New England journal of medicine · 2016Review
- The Role of Genetic and Immune Factors for the Pathogenesis of Primary Sclerosing Cholangitis in Childhood.Gastroenterology research and practice · 2016Review
- Coeliac disease and autoimmune disease-genetic overlap and screening.Nature reviews. Gastroenterology & hepatology · 2015Review
- The Influence of the Autoimmunity-Associated Ancestral HLA Haplotype AH8.1 on the Human Gut Microbiota: A Cross-Sectional Study.PloS one · 2015Article
Corrections and comments
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Authors and funding
15 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic variants within the major histocompatibility complex (MHC) represent the strongest genetic susceptibility factors for primary sclerosing cholangitis (PSC). Identifying the causal variants within this genetic complex represents a major challenge due to strong linkage disequilibrium and an overall high physical density of candidate variants. We aimed to refine the MHC association in a geographically restricted PSC patient panel. METHODOLOGY/PRINCIPAL
findingsA total of 365 PSC cases and 368 healthy controls of Scandinavian ancestry were included in the study. We incorporated data from HLA typing (HLA-A, -B, -C, -DRB3, -DRB1, -DQB1) and single nucleotide polymorphisms across the MHC (n = 18,644; genotyped and imputed) alongside previously suggested PSC risk determinants in the MHC, i.e. amino acid variation of DRβ, a MICA microsatellite polymorphism and HLA-C and HLA-B according to their ligand properties for killer immunoglobulin-like receptors. Breakdowns of the association signal by unconditional and conditional logistic regression analyses demarcated multiple PSC associated MHC haplotypes, and for eight of these classical HLA class I and II alleles represented the strongest association. A novel independent risk locus was detected near NOTCH4 in the HLA class III region, tagged by rs116212904 (odds ratio [95% confidence interval] = 2.32 [1.80, 3.00], P = 1.35×10-11). CONCLUSIONS/SIGNIFICANCE: Our study shows that classical HLA class I and II alleles, predominantly at HLA-B and HLA-DRB1, are the main risk factors for PSC in the MHC. In addition, the present assessments demonstrated for the first time an association near NOTCH4 in the HLA class III region.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.