Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis
Open accessAbstract
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.
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The presence of genetic susceptibility is supported by the increased concordance rate in monozygotic twins and confirmed by the identification of significant numbers of associated genetic loci in GWAS and other large-scale genetic approaches.
“The presence of genetic susceptibility is supported by the increased concordance rate in monozygotic twins44 and confirmed by the identification of significant numbers of associated genetic loci in Genome Wide Association Studies (GWAS) and other large-scale, high-quality genetic approaches.45–54”
From The British Society of Gastroenterology/UK-PBC primary biliary cholangitis treatment and management guidelines (2018) · cites this paper as [46]
More than 60 non-HLA susceptibility regions have been identified in PBC pathogenesis.
“In addition to the human leukocyte antigen (HLA) locus, more than 60 non-HLA susceptibility regions have been identified in PBC pathogenesis, including tumor necrosis factor superfamily member 15 (TNFSF15), Interleukin 12 A (IL12A), Interleukin 12 receptor (IL12R), Nuclear Factor Kappa B Subunit 1 (NFKB1) and other immune-associated genes6–11.”
From A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression (2023) · cites this paper as [8]
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- Authors
- The UK PBC Consortium, Mells, G. F., The Wellcome Trust Case Control Consortium 3, Floyd, J. A. B., Morley, K. I., Cordell, H. J., Franklin, C. S., Shin, S.-Y., Heneghan, M. A., Neuberger, J. M., Donaldson, P. T., Day, D. B., Ducker, S. J., Muriithi, A. W., Wheater, E. F., Hammond, C. J., Dawwas, M. F., Jones, D. E., Peltonen, L., Alexander, G. J., Sandford, R. N., & Anderson, C. A.
- Affiliations
- National Health Service (GB)
- Wellcome Sanger Institute (GB)
- The University of Melbourne (AU)
- Newcastle University (GB)
- Queen Elizabeth Hospital Birmingham (GB)
- University of Cambridge (GB)
- King's College London (GB)
- Corresponding author
- Sandford, Richard N
- Anderson, Carl A
- ORCID
- Venue
- Nature Genetics
- Published
- 2011-03-13
- Volume
- 43
- Issue
- 4
- Pages
- 329-332
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3071550
- OpenAlex
- W1965928933
- Cited by
- 464
- References
- 29
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- FWCI
- 37.82
- Type
- journal article
- Language
- en
- Update notices
- erratum (2011-10-27)
- Open access
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- www.ncbi.nlm.nih.gov
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- Funders
- Wellcome Trust (WT09355A/09/Z, WT090355/B/09/Z, WT090355/A/09/Z, WT91745/Z/10/Z, 085925/Z/08/Z, 091745)
- National Institute for Health and Care Research
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- U.S. Public Health Service (1R01LEY018246)
- National Eye Institute (R01EY018246)
- Topics
- Health Sciences › Medicine › Hepatology › Liver Diseases and Immunity
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Inflammatory Bowel Disease
- Keywords
- primary biliary cirrhosis, genetic susceptibility loci, genetic risk factors, HLA, STAT4, CD80, CD127, CXCR5, TNFRSF1A, CLEC16A, NFKB1, genetic architecture, autoimmune liver disease
- MeSH terms
- Female, Humans, Immunity, Innate, Liver Cirrhosis, Biliary, Male, Monosaccharide Transport Proteins, Risk Factors, Cohort Studies, Linkage Disequilibrium, Case-Control Studies, B7-1 Antigen, Genetic Predisposition to Disease, Receptors, Interleukin-7, Polymorphism, Single Nucleotide, Guanine Nucleotide Exchange Factors, Databases, Genetic, Lectins, C-Type, Receptors, Tumor Necrosis Factor, Type I, STAT4 Transcription Factor, NF-kappa B p50 Subunit, Death Domain Receptor Signaling Adaptor Proteins, Receptors, CXCR5, Genome-Wide Association Study, Adaptive Immunity
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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