Evidence map›Paper›PMID 21399635›Full record

SynthesisNature genetics2011

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

George F Mells, James A B Floyd, Katherine I Morley, Heather J Cordell, Christopher S Franklin, So-Youn Shin, Michael A Heneghan, James M Neuberger, Peter T Donaldson, Darren B Day and 12 more

Erratum issuedAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2011. 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 255 papers, 14 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
255citing papers in PubMed, 14 pooled it
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

255 citing papers in PubMed, 14 syntheses or guidelines pooled it.

  1. Pooled it
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  5. TheFrontiers in immunology · 2023
    Pooled it
  6. Pooled it
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  8. Genome-wide meta-analysis reveals shared newAnnals of the rheumatic diseases · 2019
    Pooled it
  9. Pooled it
  10. Guideline
  11. Pooled it
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  14. Pooled it
  15. Trial
  16. Trial
  17. A Genetic Risk Variant Associated With the Risk of Primary Biliary Cholangitis Is Inherited From Neanderthals.Liver international : official journal of the International Association for the Study of the Liver · 2026
    Article
  18. Primary biliary cirrhosis and rheumatoid arthritis: a comprehensive study combining genetics and transcriptomics.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Article
  19. Article
  20. Review

195 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

  • Erratum issued
    Richardson,Paul [added]; Nasr, Ikram [added]; Aspinall,Richard [added]
5 · Who and what money

Authors and funding

22 authors.

George F MellsAcademic Department of Medical Genetics, Cambridge University, Cambridge, UK; Department of Hepatology, Cambridge University Hospitals National Health Service (NHS) Foundation Trust, Cambridge, UK.
James A B Floyd
Katherine I Morley
Heather J Cordell
Christopher S Franklin
So-Youn Shin
Michael A Heneghan
James M Neuberger
Peter T Donaldson
Darren B Day
Samantha J Ducker
Agnes W Muriithi
Elizabeth F Wheater
Christopher J Hammond
Muhammad F Dawwas
UK PBC Consortium
Wellcome Trust Case Control Consortium 3
David E Jones
Leena Peltonen
Graeme J Alexander
Richard N Sandford
Carl A Anderson

Funding

International Collaborative Twin Study of Refractive and Glaucoma EndophenotypesR01EY018246 · NEI · DUKE UNIVERSITY · PI YOUNG, TERRI LOIS · 2007 to 2009
$1.8M
Medical Research Council G0500020Medical Research Council G0800460Medical Research Council G0802068NEI NIH HHS R01 EY018246PHS HHS 1R01LEY018246Wellcome Trust 085925/Z/08/ZWellcome Trust 091745Wellcome Trust WT090355/B/09/ZWellcome Trust WT09355A/09/ZWellcome Trust WT91745/Z/10/Z
6 · The paper itself

Abstract

In addition to the HLA locus, six genetic risk factors for primary biliary cirrhosis (PBC) have been identified in recent genome-wide association studies (GWAS). To identify additional loci, we carried out a GWAS using 1,840 cases from the UK PBC Consortium and 5,163 UK population controls as part of the Wellcome Trust Case Control Consortium 3 (WTCCC3). We followed up 28 loci in an additional UK cohort of 620 PBC cases and 2,514 population controls. We identified 12 new susceptibility loci (at a genome-wide significance level of P < 5 × 10⁻⁸) and replicated all previously associated loci. We identified three further new loci in a meta-analysis of data from our study and previously published GWAS results. New candidate genes include STAT4, DENND1B, CD80, IL7R, CXCR5, TNFRSF1A, CLEC16A and NFKB1. This study has considerably expanded our knowledge of the genetic architecture of PBC.

Indexed as

Adaptive ImmunityB7-1 AntigenCase-Control StudiesCohort StudiesDatabases, GeneticDeath Domain Receptor Signaling Adaptor ProteinsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGuanine Nucleotide Exchange FactorsHumansImmunity, InnateLectins, C-TypeLinkage DisequilibriumLiver Cirrhosis, BiliaryMaleB7-1 AntigenCLEC16A protein, humanCXCR5 protein, humanDeath Domain Receptor Signaling Adaptor ProteinsDENND1B protein, humanGuanine Nucleotide Exchange FactorsLectins, C-TypeMonosaccharide Transport ProteinsNF-kappa B p50 SubunitNFKB1 protein, humanReceptors, CXCR5Receptors, Interleukin-7Receptors, Tumor Necrosis Factor, Type ISTAT4 protein, humanSTAT4 Transcription FactorTNFRSF1A protein, human

Identifiers

PMID21399635
PMCPMC3071550

What OpenQuestion holds

Textmetadata
LicenceTDM
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.