SynthesisHuman molecular genetics2012
Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.
Synthesis in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 8 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.
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Who cites it
73 citing papers in PubMed, 8 syntheses or guidelines pooled it, 156 citations in OpenAlex.
- Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland.Annals of the rheumatic diseases · 2025Pooled it
- Genetic architecture of primary biliary cholangitis: strong evidence for HLA and non-HLA risk loci.Frontiers in immunology · 2025Pooled it
- Osteoporosis and Primary Biliary Cholangitis: A Trans-ethnic Mendelian Randomization Analysis.Clinical reviews in allergy & immunology · 2024Pooled it
- Association between STAT4 polymorphisms and risk of primary biliary cholangitis: a meta-analysis.Genes & genomics · 2018Pooled it
- Guideline
- Genetic Polymorphisms of Cytotoxic T-Lymphocyte Antigen 4 in Primary Biliary Cholangitis: A Meta-Analysis.Journal of immunology research · 2017Pooled it
- International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.Nature communications · 2015Pooled it
- Pooled it
- Primary biliary cirrhosis and rheumatoid arthritis: a comprehensive study combining genetics and transcriptomics.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- A Phenome-Wide Mendelian Randomization and Colocalization Study Reveals Genetic Association Between PBC and Other Autoimmune Disorders.Canadian journal of gastroenterology & hepatology · 2025Article
- Shared genetic architecture between autoimmune disorders and B-cell acute lymphoblastic leukemia: insights from large-scale genome-wide cross-trait analysis.BMC medicine · 2024Article
- The latest research trends in primary biliary cholangitis: a bibliometric analysis.Clinical and experimental medicine · 2023Article
- Missing Causality and Heritability of Autoimmune Hepatitis.Digestive diseases and sciences · 2023Article
- Review
- Mechanism-based target therapy in primary biliary cholangitis: opportunities before liver cirrhosis?Frontiers in immunology · 2023Review
- New insights on the role of human leukocyte antigen complex in primary biliary cholangitis.Frontiers in immunology · 2022Review
- Environmental factors, medical and family history, and comorbidities associated with primary biliary cholangitis in Japan: a multicenter case-control study.Journal of gastroenterology · 2022Article
- HLA, gut microbiome and hepatic autoimmunity.Frontiers in immunology · 2022Review
- Single cell sequencing analysis identifies genetics-modulated ORMDL3Journal of nanobiotechnology · 2021Article
- Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population.European journal of human genetics : EJHG · 2021Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
42 authors at 20 institutions in 7 countries.
Funding
Abstract
To further characterize the genetic basis of primary biliary cirrhosis (PBC), we genotyped 2426 PBC patients and 5731 unaffected controls from three independent cohorts using a single nucleotide polymorphism (SNP) array (Immunochip) enriched for autoimmune disease risk loci. Meta-analysis of the genotype data sets identified a novel disease-associated locus near the TNFSF11 gene at 13q14, provided evidence for association at six additional immune-related loci not previously implicated in PBC and confirmed associations at 19 of 22 established risk loci. Results of conditional analyses also provided evidence for multiple independent association signals at four risk loci, with haplotype analyses suggesting independent SNP effects at the 2q32 and 16p13 loci, but complex haplotype driven effects at the 3q25 and 6p21 loci. By imputing classical HLA alleles from this data set, four class II alleles independently contributing to the association signal from this region were identified. Imputation of genotypes at the non-HLA loci also provided additional associations, but none with stronger effects than the genotyped variants. An epistatic interaction between the IL12RB2 risk locus at 1p31and the IRF5 risk locus at 7q32 was also identified and suggests a complementary effect of these loci in predisposing to disease. These data expand the repertoire of genes with potential roles in PBC pathogenesis that need to be explored by follow-up biological studies.
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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.