SynthesisJournal of hepatology2021
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.
Synthesis in Journal of hepatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 105 papers, 14 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
105 citing papers in PubMed, 14 syntheses or guidelines pooled it, 178 citations in OpenAlex.
- Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases.Human genetics · 2026Pooled it
- Familial and genetic overlap between Sjögren's disease and other autoimmune diseases.Frontiers in immunology · 2026Pooled it
- Gastrointestinal traits, common inflammatory disorders, gallstones, and biliary tract cancer: A network Mendelian randomization study.Journal of advanced research · 2026Pooled it
- Large-scale multi-trait genome-wide analysis for inflammatory bowel disease reveals new insights into its molecular mechanisms and emphasizes the roles of systemic immune regulation.Briefings in bioinformatics · 2025Pooled it
- The Genomics/Genetics of Primary Biliary Cholangitis: The Case for a Functional SNP rs10893900 in ETS1/FLI1 and Review of the Literature.Clinical reviews in allergy & immunology · 2025Pooled it
- Cross-Phenotype Genome-Wide Association Study on the Shared Genetic Susceptibility to Systemic Sclerosis and Primary Biliary Cholangitis.Arthritis & rheumatology (Hoboken, N.J.) · 2025Pooled it
- Genome-wide association and multi-omics analyses provide insights into the disease mechanisms of central serous chorioretinopathy.Scientific reports · 2025Pooled it
- Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder.Cell genomics · 2025Pooled it
- Genetic architecture of primary biliary cholangitis: strong evidence for HLA and non-HLA risk loci.Frontiers in immunology · 2025Pooled it
- Leveraging pleiotropy identifies common-variant associations with selective IgA deficiency.Clinical immunology (Orlando, Fla.) · 2024Pooled it
- Osteoporosis and Primary Biliary Cholangitis: A Trans-ethnic Mendelian Randomization Analysis.Clinical reviews in allergy & immunology · 2024Pooled it
- Pooled it
- MGAT5/TMEM163 variant is associated with prognosis in ursodeoxycholic acid-treated patients with primary biliary cholangitis.Journal of gastroenterology · 2024Pooled it
- A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression.Nature communications · 2023Pooled it
- Environmental shaping of tolerance failure in autoimmune liver diseases: a phenotype-specific framework with primary biliary cholangitis as the strongest model.Journal of translational autoimmunity · 2026Review
- rs57494551 increases CXCR5 expression and IgMJournal of gastroenterology · 2026Article
- A segregating PTK2B variant in a primary biliary cholangitis (PBC) family induces PBC-like autoimmune features in knock-in mice.Cell & bioscience · 2026Article
- Bidirectional association between immune-mediated diseases and major depressive disorder: evidence from cohort, genome-wide pleiotropic, and experimental studies.Molecular psychiatry · 2026Article
- Genetic testing in liver diseases: Clinical applications.JHEP reports : innovation in hepatology · 2026Review
- Exploring the interplay between systemic immune-inflammatory response, nutritional patterns, and metabolic health in MAFLD.Scientific reports · 2026Article
45 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issued
- Erratum issued
Authors and funding
50 authors at 16 institutions in 6 countries.
Funding
Abstract
BACKGROUNDS &
aimsPrimary biliary cholangitis (PBC) is a chronic liver disease in which autoimmune destruction of the small intrahepatic bile ducts eventually leads to cirrhosis. Many patients have inadequate response to licensed medications, motivating the search for novel therapies. Previous genome-wide association studies (GWAS) and meta-analyses (GWMA) of PBC have identified numerous risk loci for this condition, providing insight into its aetiology. We undertook the largest GWMA of PBC to date, aiming to identify additional risk loci and prioritise candidate genes for in silico drug efficacy screening.
methodsWe combined new and existing genotype data for 10,516 cases and 20,772 controls from 5 European and 2 East Asian cohorts.
resultsWe identified 56 genome-wide significant loci (20 novel) including 46 in European, 13 in Asian, and 41 in combined cohorts; and a 57
conclusionsThis study has identified additional risk loci for PBC, provided a hierarchy of agents that could be trialled in this condition, and emphasised the value of genetic and genomic approaches to drug discovery in complex disorders. LAY SUMMARY: Primary biliary cholangitis (PBC) is a chronic liver disease that eventually leads to cirrhosis. In this study, we analysed genetic information from 10,516 people with PBC and 20,772 healthy individuals recruited in Canada, China, Italy, Japan, the UK, or the USA. We identified several genetic regions associated with PBC. Each of these regions contains several genes. For each region, we used diverse sources of evidence to help us choose the gene most likely to be involved in causing PBC. We used these 'candidate genes' to help us identify medications that are currently used for treatment of other conditions, which might also be useful for treatment of PBC.
Indexed as
Identifiers
What Socratic 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 Socratic graph.