SynthesisNature communications2015
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
Open access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 155 papers, 17 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
155citing papers in PubMed, 17 pooled it
16.9field-weighted citation impact, top 1% of its field
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
155 citing papers in PubMed, 17 syntheses or guidelines pooled it, 306 citations in OpenAlex.
- 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
- Genetic architecture of primary biliary cholangitis: strong evidence for HLA and non-HLA risk loci.Frontiers in immunology · 2025Pooled it
- Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.Nature communications · 2024Pooled it
- A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression.Nature communications · 2023Pooled it
- Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.Nature communications · 2023Pooled it
- An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.Journal of hepatology · 2021Pooled it
- Partitioned glioma heritability shows subtype-specific enrichment in immune cells.Neuro-oncology · 2021Pooled it
- Sex-stratified genome-wide association study of multisite chronic pain in UK Biobank.PLoS genetics · 2021Pooled it
- Replication study and meta-analysis indicate a suggestive association of RUNX3 locus with primary biliary cholangitis.Immunogenetics · 2020Pooled it
- The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.Nature communications · 2020Pooled it
- Genome-wide meta-analysis reveals shared newAnnals of the rheumatic diseases · 2019Pooled it
- Guideline
- Genetic variants in the platelet-derived growth factor subunit B gene associated with pancreatic cancer risk.International journal of cancer · 2018Pooled it
- Skin Manifestations Associated with Autoimmune Liver Diseases: a Systematic Review.Clinical reviews in allergy & immunology · 2017Pooled it
- Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility.Nature communications · 2017Pooled it
- Genetic Polymorphisms of Cytotoxic T-Lymphocyte Antigen 4 in Primary Biliary Cholangitis: A Meta-Analysis.Journal of immunology research · 2017Pooled it
- Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases.American journal of human genetics · 2016Pooled it
- Co-occurring expression and methylation QTLs allow detection of common causal variants and shared biological mechanisms.Nature communications · 2018Trial
- Genetic Association of PTPN22 Polymorphisms with Autoimmune Hepatitis and Primary Biliary Cholangitis in Japan.Scientific reports · 2016Trial
- Tissue Damage in Rheumatoid Arthritis Is Genetically Linked to Low Peptidylglycine Alpha-Amidating Monooxygenase Activity in Synovial Fibroblasts.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
95 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
26 authors at 20 institutions in 8 countries.
Heather J CordellInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Younghun HanCenter for Genomic Medicine, Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire 03755, USA.
George F MellsAcademic Department of Medical Genetics, Cambridge University, Cambridge CB2 0QQ, UK.
Yafang LiCenter for Genomic Medicine, Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire 03755, USA.
Gideon M HirschfieldCentre for Liver Research and NIHR Biomedical Research Unit, University of Birmingham, Birmingham B15 2TT, UK.
Casey S GreeneDepartment of Genetics, Institute for Quantitative Biomedical Sciences, Geisel School of Medicine, Dartmouth College, Hanover, New Hampshire 03755, USA.
Gang XieMount Sinai Hospital, Lunenfeld-Tanenbaum Research Institute and Toronto General Research Institute, Toronto, Ontario M5G 1X5, Canada.
Brian D JuranCenter for Basic Research in Digestive Diseases, Mayo Clinic, Rochester, Minnesota 55905, USA.
Dakai ZhuCenter for Genomic Medicine, Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire 03755, USA.
David C QianCenter for Genomic Medicine, Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire 03755, USA.
James A B FloydWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Katherine I MorleyWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Daniele PratiDepartment of Transfusion Medicine and Hematology, Ospedale Alessandro Manzoni, Lecco 23900, Italy.
Ana LleoCenter for Autoimmune Liver Diseases, IRCCS Instituto Clinico Humanitas, 20089 Rozzano, Italy.
Daniele CusiUniversità degli Studi di Milano, Milan 20129, Italy.
Canadian-US PBC Consortium
Italian PBC Genetics Study Group
UK-PBC Consortium
M Eric GershwinUniversity of California - Davis, Davis, California 95616, USA.
Carl A AndersonWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Konstantinos N LazaridisCenter for Basic Research in Digestive Diseases, Mayo Clinic, Rochester, Minnesota 55905, USA.
Pietro InvernizziCenter for Autoimmune Liver Diseases, IRCCS Instituto Clinico Humanitas, 20089 Rozzano, Italy.
Michael F SeldinUniversity of California - Davis, Davis, California 95616, USA.
Richard N SandfordAcademic Department of Medical Genetics, Cambridge University, Cambridge CB2 0QQ, UK.
Christopher I AmosCenter for Genomic Medicine, Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire 03755, USA.
Katherine A SiminovitchMount Sinai Hospital, Lunenfeld-Tanenbaum Research Institute and Toronto General Research Institute, Toronto, Ontario M5G 1X5, Canada.
Humanitas University · ITUniversity of Liverpool · GBMayo Clinic · USDartmouth College · USLincoln County Hospital · GBNottingham University Hospitals NHS Trust · GBUniversity of Padua · ITAberdeen Royal Infirmary · GBBarts Health NHS Trust · GBCasa Sollievo della Sofferenza · ITCheltenham General Hospital · GBDumfries and Galloway Royal Infirmary · GBFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITImperial College Healthcare NHS Trust · GBNHS Lothian · GBNorth Devon District Hospital · GBPoole Hospital · GBPrincess Alexandra Hospital NHS Trust · GBRoyal Cornwall Hospital Trust · GBRoyal Free London NHS Foundation Trust · GB
Funding
Translational Engineering in Cancer (TEC)P30CA023108 · NCI · DARTMOUTH COLLEGE · PI Fred W Kolling IV · 1985 to 2026
$91.3MQuality Assurance and Quality Control Project Management: Improving Submissions and Study Conduct in the Human Subjects Research Prior Approval ProcessUL1TR002529 · NCATS · INDIANA UNIVERSITY INDIANAPOLIS · PI MOE, SHARON M, WIEHE, SARAH ELIZABETH · 2018 to 2022
$27.2MIndiana Clinical and Translational Sciences InstituteUL1TR001108 · NCATS · INDIANA UNIVERSITY INDIANAPOLIS · PI DENNE, SCOTT C., SHEKHAR, ANANTHA · 2013 to 2017
$23.3MQuantitative Biology Research InstituteP20GM103534 · NIGMS · DARTMOUTH COLLEGE · PI AMOS, CHRISTOPHER I. · 2012 to 2016
$8.6MGenomics of Primary Biliary CirrhosisR01DK080670 · NIDDK · MAYO CLINIC ROCHESTER · PI LAZARIDIS, KONSTANTINOS N · 2008 to 2015
$2.9MIDENTIFICATION OF COMMON AND UNCOMMON GENE VARIANTS IN PBCR01DK091823 · NIDDK · UNIVERSITY OF CALIFORNIA AT DAVIS · PI GERSHWIN, MERRILL E, KINGSMORE, STEPHEN FRANCIS · 2011 to 2014
$2.4MCIHR MOP74621Medical Research Council G0800460Medical Research Council MR/L001489/1NCATS NIH HHS UL1 TR001108NCI NIH HHS P30 CA023108NIDDK NIH HHS R01 DK080670NIDDK NIH HHS R01 DK091823NIDDK NIH HHS R01DK091823NIDDK NIH HHS R01DK80670NIGMS NIH HHS GM103534NIGMS NIH HHS P20 GM103534Wellcome Trust 085475Wellcome Trust 085925Wellcome Trust 087436Wellcome Trust 090355Wellcome Trust 102858/Z/13/Z
Abstract
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5 × 10(-8)) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist.
Indexed as
Genome-Wide Association StudyHumansLiver Cirrhosis, Biliary
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
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.