ArticleScientific reports2017
Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 43 citations in OpenAlex.
- Deletion of the T1D risk geneBiochemistry and biophysics reports · 2026Article
- rs57494551 increases CXCR5 expression and IgMJournal of gastroenterology · 2026Article
- ORMDL3 restrains type I interferon signaling and anti-tumor immunity by promoting RIG-I degradation.eLife · 2025Article
- Review
- Investigating shared genetic architecture between inflammatory bowel diseases and primary biliary cholangitis.JHEP reports : innovation in hepatology · 2024Article
- Vitamin D constrains inflammation by modulating the expression of key genes on Chr17q12-21.1.eLife · 2024Article
- Expression levels ofHeliyon · 2024Article
- To die or not to die: Gasdermins in intestinal health and disease.Seminars in immunology · 2024Review
- rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases.Human genetics · 2024Article
- From gene identifications to therapeutic targets for asthma: Focus on great potentials ofChinese medical journal pulmonary and critical care medicine · 2023Review
- Review
- The enigmatic roles of epithelial gasdermin B: Recent discoveries and controversies.Trends in cell biology · 2023Review
- rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms.Human genomics · 2022Article
- Genomic Insights into Myasthenia Gravis Identify Distinct Immunological Mechanisms in Early and Late Onset Disease.Annals of neurology · 2021Article
- rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis.Scientific reports · 2021Article
- Mapping the 17q12-21.1 Locus for Variants Associated with Early-Onset Asthma in African Americans.American journal of respiratory and critical care medicine · 2021Article
- [Advances in the study of abnormal expression of genes related to primary biliary cholangitis].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2019Article
- POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.Scientific reports · 2019Article
- NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants.Cellular and molecular gastroenterology and hepatology · 2019Article
- High-resolution genome-wide functional dissection of transcriptional regulatory regions and nucleotides in human.Nature communications · 2018Article
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Numerous genome-wide association studies (GWAS) have been performed to identify susceptibility genes to various human complex diseases. However, in many cases, neither a functional variant nor a disease susceptibility gene have been clarified. Here, we show an efficient approach for identification of a functional variant in a primary biliary cholangitis (PBC)-susceptible region, chromosome 17q12-21 (ORMDL3-GSDMB-ZPBP2-IKZF3). High-density association mapping was carried out based on SNP imputation analysis by using the whole-genome sequence data from a reference panel of 1,070 Japanese individuals (1KJPN), together with genotype data from our previous GWAS (PBC patients: n = 1,389; healthy controls: n = 1,508). Among 23 single nucleotide polymorphisms (SNPs) with P < 1.0 × 10
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