ArticleAmerican journal of human genetics2012
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 136 papers, 7 of them syntheses that pooled it.
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Who cites it
136 citing papers in PubMed, 7 syntheses or guidelines pooled it, 270 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
- 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
- Genetic Association of PTPN22 Polymorphisms with Autoimmune Hepatitis and Primary Biliary Cholangitis in Japan.Scientific reports · 2016Trial
- rs57494551 increases CXCR5 expression and IgMJournal of gastroenterology · 2026Article
- Unravelling genetic susceptibility and causal factors in liver health using MRI quantification of inflammation, fat and iron in the liver.Human genomics · 2026Article
- Molecular mechanisms underlying T cell subset imbalance and precision therapeutic targets in primary biliary cholangitis.Frontiers in pharmacology · 2026Review
- Article
- The Treatment of Primary Biliary Cholangitis: Time for Personalized Medicine.Clinical reviews in allergy & immunology · 2025Review
- OCA-B promotes pathogenic maturation of stem-like CD4+ T cells and autoimmune demyelination.The Journal of clinical investigation · 2025Article
- Article
- Primary Biliary Cholangitis Associated with Ulcerative Colitis: Case Series and Literature Review.Medicina (Kaunas, Lithuania) · 2024Review
- Review
- Association of CCR6 functional polymorphisms with Primary Biliary Cholangitis.Journal of translational autoimmunity · 2024Article
- ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han.Hepatology international · 2024Article
- OCA-B/Pou2af1 is sufficient to promote CD4Proceedings of the National Academy of Sciences of the United States of America · 2024Article
76 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
80 authors at 20 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
For the identification of susceptibility loci for primary biliary cirrhosis (PBC), a genome-wide association study (GWAS) was performed in 963 Japanese individuals (487 PBC cases and 476 healthy controls) and in a subsequent replication study that included 1,402 other Japanese individuals (787 cases and 615 controls). In addition to the most significant susceptibility region, human leukocyte antigen (HLA), we identified two significant susceptibility loci, TNFSF15 (rs4979462) and POU2AF1 (rs4938534) (combined odds ratio [OR] = 1.56, p = 2.84 × 10(-14) for rs4979462, and combined OR = 1.39, p = 2.38 × 10(-8) for rs4938534). Among 21 non-HLA susceptibility loci for PBC identified in GWASs of individuals of European descent, three loci (IL7R, IKZF3, and CD80) showed significant associations (combined p = 3.66 × 10(-8), 3.66 × 10(-9), and 3.04 × 10(-9), respectively) and STAT4 and NFKB1 loci showed suggestive association with PBC (combined p = 1.11 × 10(-6) and 1.42 × 10(-7), respectively) in the Japanese population. These observations indicated the existence of ethnic differences in genetic susceptibility loci to PBC and the importance of TNF signaling and B cell differentiation for the development of PBC in individuals of European descent and Japanese individuals.
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