ArticleJournal of human genetics2015
Disease susceptibility genes shared by primary biliary cirrhosis and Crohn's disease in the Japanese population.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- Primary biliary cirrhosis and inflammatory bowel disease: a two-sample bidirectional Mendelian randomization study.Experimental biology and medicine (Maywood, N.J.) · 2026Article
- Causal relationship between primary biliary cholangitis and inflammatory bowel disease: a Mendelian randomization study.Gastroenterology report · 2024Article
- Assessment of STAT4 Variants and Risk of Hepatocellular Carcinoma in Latin Americans and Europeans.Cancers · 2023Article
- A 60-Year-Old Woman with Primary Biliary Cholangitis and Crohn's Ileitis Following the Suspension of Ursodeoxycholic Acid.The American journal of case reports · 2022Article
- Role of the CXCL13/CXCR5 Axis in Autoimmune Diseases.Frontiers in immunology · 2022Review
- Liver involvement in inflammatory bowel disease: What should the clinician know?World journal of hepatology · 2021Review
- 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
- Characteristics and Inpatient Outcomes of Primary Biliary Cholangitis and Autoimmune Hepatitis Overlap Syndrome.Journal of clinical and translational hepatology · 2021Article
- Genomics of Human Fibrotic Diseases: Disordered Wound Healing Response.International journal of molecular sciences · 2020Review
- The ETS transcription factor ELF1 regulates a broadly antiviral program distinct from the type I interferon response.PLoS pathogens · 2019Article
- NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants.Cellular and molecular gastroenterology and hepatology · 2019Article
- A Powerful Approach to Estimating Annotation-Stratified Genetic Covariance via GWAS Summary Statistics.American journal of human genetics · 2017Article
- Increased expression of IL12B mRNA transcribed from the risk haplotype for Crohn's disease is a risk factor for disease relapse in Japanese patients.Journal of gastroenterology · 2017Article
Corrections and comments
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Authors and funding
19 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We previously identified TNFSF15 as the most significant susceptibility gene at non-HLA loci for both primary biliary cirrhosis (PBC) and Crohn's diseases (CD) in the Japanese population. The aim of this study is to identify further disease susceptibility genes shared by PBC and CD. We selected 15 and 33 genetic variants that were significantly associated with PBC and CD, respectively, based on previously reported genome-wide association studies of the Japanese population. Next, an association study was independently performed for these genetic variants in CD (1312 CD patients and 3331 healthy controls) and PBC (1279 PBC patients and 1015 healthy controls) cohorts. Two CD susceptibility genes, ICOSLG rs2838519 and IL12B rs6556412, were also nominally associated with susceptibility to PBC (P=3.85 × 10(-2) and P=8.40 × 10(-3), respectively). Three PBC susceptibility genes, CXCR5 rs6421571, STAT4 rs7574865 and NFKB1 rs230534, were nominally associated with susceptibility to CD (P=2.82 × 10(-2), P=3.88 × 10(-2) and P=2.04 × 10(-2), respectively). The effect of ICOSLG and CXCR5 variants were concordant but the effect of STAT4, NFKB1 and IL12B variants were discordant for PBC and CD. TNFSF15 and ICOSLG-CXCR5 might constitute a shared pathogenic pathway in the development of PBC and CD in the Japanese population, whereas IL12B-STAT4-NFKB1 might constitute an opposite pathogenic pathway, reflecting the different balance between Th1 and Th17 in the two diseases.
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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.