SynthesisNature genetics2013
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.
Synthesis in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 211 papers, 6 of them syntheses that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
211 citing papers in PubMed, 6 syntheses or guidelines pooled it, 393 citations in OpenAlex.
- Genetic architecture of primary biliary cholangitis: strong evidence for HLA and non-HLA risk loci.Frontiers in immunology · 2025Pooled it
- Primary sclerosing cholangitis and the risk of cancer, cardiovascular disease, and all-cause mortality: a systematic review and meta-analysis of cohort studies.Scientific reports · 2021Pooled it
- Clinical guidelines for primary sclerosing cholangitis 2017.Journal of gastroenterology · 2018Guideline
- Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway.Annals of the rheumatic diseases · 2016Pooled it
- Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.Nature medicine · 2015Pooled it
- Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease.Circulation · 2015Pooled it
- An epithelial GPR35 isoform supports tumor-associated transcriptional and metabolic phenotypes.FEBS letters · 2026Article
- Epidemiology of primary sclerosing cholangitis in general and IBD populations: a systematic review and meta-analysis.Hepatology international · 2026Article
- Macrophage signaling associates with fibrogenic program activation in periductal fibroblasts in pediatric primary sclerosing cholangitis.JCI insight · 2026Article
- Distinct phenotype of primary sclerosing cholangitis-associated inflammatory bowel disease.Journal of gastroenterology · 2026Review
- A Multi-omics and Machine Learning Framework Identifies Plasma SBDS as a Causal Biomarker and Therapeutic Target in Primary Sclerosing Cholangitis.Journal of clinical and translational hepatology · 2026Article
- Proteome-scale autoantibody profiling in PSC: Associations with clinical phenotypes and evidence for neuroendocrine deregulations.JHEP reports : innovation in hepatology · 2026Article
- Research trends on autoimmune liver diseases and gut microbiota (1989-2025): a bibliometric and visualization analysis based on the web of science core collection database.Frontiers in immunology · 2026Article
- Conserved Ductular Reaction Mechanisms in Biliary Atresia and Primary Sclerosing Cholangitis Derived From Single-Cell and Spatial Transcriptomics.Cellular and molecular gastroenterology and hepatology · 2026Review
- Unraveling the Shared Genetic Architecture and Polygenic Overlap Between Loneliness, Major Depressive Disorder, and Sleep-Related Traits.Biomedicines · 2025Article
- Bidirectional causal links between diabetes mellitus and autoimmune liver diseases: Insights from Mendelian randomization.Journal of diabetes investigation · 2025Article
- Unmet needs in autoimmune liver diseases.Current opinion in immunology · 2025Review
- T and B cell responses against Epstein-Barr virus in primary sclerosing cholangitis.Nature medicine · 2025Article
- Shared genetic architecture between leukocyte telomere length and Alzheimer's disease.Alzheimer's research & therapy · 2025Article
- Bioinformatics analysis reveals shared molecular pathways for relationship between ulcerative colitis and primary sclerosing cholangitis.Genomics & informatics · 2025Article
151 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
87 authors at 20 institutions in 15 countries.
Funding
Abstract
Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyped using the Immunochip. We identified 12 genome-wide significant associations outside the human leukocyte antigen (HLA) complex, 9 of which were new, increasing the number of known PSC risk loci to 16. Despite comorbidity with inflammatory bowel disease (IBD) in 72% of the cases, 6 of the 12 loci showed significantly stronger association with PSC than with IBD, suggesting overlapping yet distinct genetic architectures for these two diseases. We incorporated association statistics from 7 diseases clinically occurring with PSC in the analysis and found suggestive evidence for 33 additional pleiotropic PSC risk loci. Together with network analyses, these findings add to the genetic risk map of PSC and expand on the relationship between PSC and other immune-mediated diseases.
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What OpenQuestion holds
Registered trials
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.