ArticleHepatology (Baltimore, Md.)2011
Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9.
Article in Hepatology (Baltimore, Md.), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 130 citations in OpenAlex.
- Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL.The Journal of investigative dermatology · 2012Pooled it
- Epigenetic drug control of Clec4g/LSECtin expression reduces fibrosis burden in cirrhosis.Hepatology communications · 2026Article
- Univariate- and machine learning-based plasma metabolite signature differentiates PSC-IBD from IBD and is predicted to be driven by gut microbial changes.Metabolomics : Official journal of the Metabolomic Society · 2026Article
- Primary biliary cirrhosis and inflammatory bowel disease: a two-sample bidirectional Mendelian randomization study.Experimental biology and medicine (Maywood, N.J.) · 2026Article
- 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
- Research progress on the use of polyphenols in the treatment of Crohn's disease.Frontiers in pharmacology · 2025Review
- Network proximity analysis as a theoretical model for identifying potential novel therapies in primary sclerosing cholangitis.BMC medical genomics · 2024Article
- CARD9 in the pathogenesis of axial spondyloarthritis.Best practice & research. Clinical rheumatology · 2024Review
- Translational genetics identifies a phosphorylation switch in CARD9 required for innate inflammatory responses.Cell reports · 2024Article
- Card9/neutrophil signalling axis promotes IL-17A-mediated ankylosing spondylitis.Annals of the rheumatic diseases · 2024Article
- Distinct metabolomic and lipidomic profiles in serum samples of patients with primary sclerosing cholangitis.Frontiers in medicine · 2024Article
- Primary Sclerosing Cholangitis and Inflammatory Bowel Disease: A Review.Journal of clinical and translational hepatology · 2022Review
- Fungal microbiome in inflammatory bowel disease: a critical assessment.The Journal of clinical investigation · 2022Review
- The role and mechanism of CARD9 gene polymorphism in diseases.Biomedical journal · 2021Review
- Exploring the Pathogenic Role and Therapeutic Implications of Interleukin 2 in Autoimmune Hepatitis.Digestive diseases and sciences · 2021Review
- Intrahepatic cholangiocarcinoma: Morpho-molecular pathology, tumor reactive microenvironment, and malignant progression.Advances in cancer research · 2021Review
- USP15 Deubiquitinates CARD9 to Downregulate C-Type Lectin Receptor-Mediated Signaling.ImmunoHorizons · 2020Article
- Can cinnamon spice down autoimmune diseases?Journal of clinical & experimental immunology · 2020Article
- Common functional alterations identified in blood transcriptome of autoimmune cholestatic liver and inflammatory bowel diseases.Scientific reports · 2019Article
- CARD-BCL-10-MALT1 signalling in protective and pathological immunity.Nature reviews. Immunology · 2019Review
Corrections and comments
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Authors and funding
33 authors at 13 institutions in 6 countries.
Funding
Abstract
unlabelledPrimary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease characterized by inflammation and fibrosis of the bile ducts. Both environmental and genetic factors contribute to its pathogenesis. To further clarify its genetic background, we investigated susceptibility loci recently identified for ulcerative colitis (UC) in a large cohort of 1,186 PSC patients and 1,748 controls. Single nucleotide polymorphisms (SNPs) tagging 13 UC susceptibility loci were initially genotyped in 854 PSC patients and 1,491 controls from Benelux (331 cases, 735 controls), Germany (265 cases, 368 controls), and Scandinavia (258 cases, 388 controls). Subsequently, a joint analysis was performed with an independent second Scandinavian cohort (332 cases, 257 controls). SNPs at chromosomes 2p16 (P-value 4.12 × 10(-4) ), 4q27 (P-value 4.10 × 10(-5) ), and 9q34 (P-value 8.41 × 10(-4) ) were associated with PSC in the joint analysis after correcting for multiple testing. In PSC patients without inflammatory bowel disease (IBD), SNPs at 4q27 and 9q34 were nominally associated (P < 0.05). We applied additional in silico analyses to identify likely candidate genes at PSC susceptibility loci. To identify nonrandom, evidence-based links we used GRAIL (Gene Relationships Across Implicated Loci) analysis showing interconnectivity between genes in six out of in total nine PSC-associated regions. Expression quantitative trait analysis from 1,469 Dutch and UK individuals demonstrated that five out of nine SNPs had an effect on cis-gene expression. These analyses prioritized IL2, CARD9, and REL as novel candidates.
conclusionWe have identified three UC susceptibility loci to be associated with PSC, harboring the putative candidate genes REL, IL2, and CARD9. These results add to the scarce knowledge on the genetic background of PSC and imply an important role for both innate and adaptive immunological factors.
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