ArticleGastroenterology2008
Primary biliary cirrhosis is associated with a genetic variant in the 3' flanking region of the CTLA4 gene.
Article in Gastroenterology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01161953 (Understanding the Genetic Predisposition to the Development of Primary Biliary Cirrhosis), which is not on this map. Cited by 29 papers, 2 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.
Understanding the Genetic Predisposition to the Development of Primary Biliary Cirrhosis (PBC).
Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 64 citations in OpenAlex.
- Genetic architecture of primary biliary cholangitis: strong evidence for HLA and non-HLA risk loci.Frontiers in immunology · 2025Pooled it
- Genetic Polymorphisms of Cytotoxic T-Lymphocyte Antigen 4 in Primary Biliary Cholangitis: A Meta-Analysis.Journal of immunology research · 2017Pooled it
- Cryoproteins in Non-HCV-Related Autoimmune Disorders: A Serious Cold-Induced Problem.Diagnostics (Basel, Switzerland) · 2025Review
- Autoimmune Hepatitis in a Patient With Cryoglobulinemic Vasculitis: A Rare Association.Cureus · 2023Article
- Reduced Number of Thymoma CTLA4-Positive Cells Is Associated With a Higher Probability of Developing Myasthenia Gravis.Neurology(R) neuroimmunology & neuroinflammation · 2023Article
- Exploration of the association between the single-nucleotide polymorphism of co-stimulatory system and rheumatoid arthritis.Frontiers in immunology · 2023Article
- Investigation of the association between the genetic polymorphisms of the co-stimulatory system and systemic lupus erythematosus.Frontiers in immunology · 2022Article
- Pinpointing miRNA and genes enrichment over trait-relevant tissue network in Genome-Wide Association Studies.BMC medical genomics · 2020Article
- Bioinformatics Analysis Revealed Novel 3'UTR Variants Associated with Intellectual Disability.Genes · 2020Article
- Precision Cardio-Oncology: a Systems-Based Perspective on Cardiotoxicity of Tyrosine Kinase Inhibitors and Immune Checkpoint Inhibitors.Journal of cardiovascular translational research · 2020Review
- Genetic association of E26 transformation specific sequence 1 polymorphisms with the susceptibility of primary biliary cholangitis in China.Scientific reports · 2019Article
- Genetics and epigenetics in the pathogenesis of primary biliary cholangitis.Clinical journal of gastroenterology · 2018Review
- Cytotoxic T lymphocyte-associated antigen-4 gene polymorphisms and biliary atresia susceptibility in Chinese children.International journal of clinical and experimental pathology · 2018Article
- Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis.Journal of immunology research · 2017Review
- Primary biliary cirrhosis associated with Graves' disease in a male patient.Clinical journal of gastroenterology · 2016Article
- Genome-Wide Association Studies in Primary Biliary Cirrhosis.Seminars in liver disease · 2015Review
- Transitioning from Idiopathic to Explainable Autoimmune Hepatitis.Digestive diseases and sciences · 2015Review
- Genetic polymorphisms of OCT-1 confer susceptibility to severe progression of primary biliary cirrhosis in Japanese patients.Journal of gastroenterology · 2014Article
- Association of genes involved in bile acid synthesis with the progression of primary biliary cirrhosis in Japanese patients.Journal of gastroenterology · 2013Article
- Impact of microbes on autoimmune diseases.Archivum immunologiae et therapiae experimentalis · 2013Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
BACKGROUND &
aimsGenetic variation is invoked as a strong component underlying primary biliary cirrhosis (PBC) and other autoimmune disorders. Data suggest that some of this genetic risk is shared, affecting function of the immune mechanisms controlling self-tolerance. Cytotoxic T-lymphocyte antigen 4 (CTLA4) encodes a coinhibitory immunoreceptor that is a key regulator of self-tolerance with established genetic associations to multiple autoimmune diseases but conflicting evidence of involvement with PBC. We aimed to perform a more comprehensive assessment of CTLA4 genetic variation in PBC using a haplotype-tagging based approach.
methodsSingle nucleotide polymorphisms (SNPs) were genotyped in 402 PBC patients and 279 controls and evaluated for association with PBC and with antimitochondrial antibody (AMA) status and prior orthotopic liver transplantation (OLT) among the PBC patients, both individually and as inferred haplotypes, using logistic regression.
resultsAll SNPs were in Hardy-Weinberg equilibrium. We identified a novel and relatively strong association between PBC and rs231725, a SNP in the 3' flanking region of CTLA4 located outside of the area previously investigated in PBC. This SNP tags a common CTLA4 haplotype that contains a number of functionally implicated autoimmune CTLA4 SNPs, which was also found to be associated with PBC and to a lesser extent AMA status and prior OLT.
conclusionsOur findings suggest that CTLA4 has an impact on the risk of PBC and possibly plays a role in influencing AMA development as well as progression to OLT among PBC patients. Replication in a suitable, independent PBC cohort is needed.
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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.