ArticleScientific reports2021
rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- The role of mitochondria-related key genes in primary biliary cholangitis was analyzed based on transcriptome sequencing data.Frontiers in immunology · 2025Article
- Characterization of a novel sarcoma cell line with an EWSR1::POU2AF3 fusion.Pathology oncology research : POR · 2025Article
- rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases.Human genetics · 2024Article
- Review
- rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms.Human genomics · 2022Article
- Possible causes of atherosclerosis: lncRNAAnnals of translational medicine · 2022Article
- Oxidative Stress-Related lncRNAs Are Potential Biomarkers for Predicting Prognosis and Immune Responses in Patients With LUAD.Frontiers in genetics · 2022Article
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Authors and funding
13 authors at 8 institutions in 1 country.
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Abstract
Primary biliary cholangitis (PBC) is a chronic, progressive cholestatic liver disease in which intrahepatic bile ducts are destroyed by an autoimmune reaction. Our previous genome-wide association study (GWAS) identified chromosome 11q23.1 as a susceptibility gene locus for PBC in the Japanese population. Here, high-density association mapping based on single nucleotide polymorphism (SNP) imputation and in silico/in vitro functional analyses identified rs1944919 as the primary functional variant. Expression-quantitative trait loci analyses showed that the PBC susceptibility allele of rs1944919 was significantly associated with increased COLCA1/COLCA2 expression levels. Additionally, the effects of rs1944919 on COLCA1/COLCA2 expression levels were confirmed using genotype knock-in versions of cell lines constructed using the CRISPR/Cas9 system and differed between rs1944919-G/G clones and -T/T clones. To our knowledge, this is the first study to demonstrate the contribution of COLCA1/COLCA2 to PBC susceptibility.
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