ArticleCellular and molecular gastroenterology and hepatology2019
NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants.
Article in Cellular and molecular gastroenterology and hepatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 3 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 3 syntheses or guidelines pooled it, 26 citations in OpenAlex.
- Novel pleiotropic loci link vascular and immune pathways in systemic sclerosis and primary Raynaud's phenomenon.Rheumatology (Oxford, England) · 2026Pooled it
- 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
- A Systematic Review of Host Genomic Variation and Neuropsychological Outcomes for Pediatric Cancer Survivors.Neuropsychology review · 2023Pooled it
- rs57494551 increases CXCR5 expression and IgMJournal of gastroenterology · 2026Article
- Current Treatment of Primary Biliary Cholangitis and Primary Sclerosing Cholangitis: A Comprehensive Review.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2026Review
- Primary biliary cirrhosis and rheumatoid arthritis: a comprehensive study combining genetics and transcriptomics.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
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- Noninvasive assessment of organ-specific and shared pathways in multi-organ fibrosis using T1 mapping.Nature medicine · 2024Article
- rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases.Human genetics · 2024Article
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- TheCells · 2022Article
- Endothelin receptor B enhances liver injury and pro-inflammatory responses by increasing G-protein-coupled receptor kinase-2 expression in primary biliary cholangitis.Scientific reports · 2022Article
- rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms.Human genomics · 2022Article
- The chromosome-scale genome of the raccoon dog: Insights into its evolutionary characteristics.iScience · 2022Article
- NFκB1 Polymorphisms Are Associated with Severe Influenza A (H1N1) Virus Infection in a Canadian Population.Microorganisms · 2022Article
- Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation.International journal of molecular sciences · 2022Article
- Differentiation and comorbidity of bipolar disorder and attention deficit and hyperactivity disorder in children, adolescents, and adults: A clinical and nosological perspective.Frontiers in psychiatry · 2022Article
- Emerging Insights Into Chronic Renal Disease Pathogenesis in Hypertension From Human and Animal Genomic Studies.Hypertension (Dallas, Tex. : 1979) · 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
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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
BACKGROUND &
aimsPrimary biliary cholangitis (PBC) is a chronic and cholestatic liver disease that eventually leads to cirrhosis and hepatic failure. We recently identified several susceptibility genes included NFKB1 and MANBA for PBC in the Japanese population by genome-wide association study. However, the primary functional variants in the NFKB1/MANBA region and the molecular mechanism for conferring disease susceptibility to PBC have not yet been clarified.
methodsWe performed high-density association mapping based on a single-nucleotide polymorphism (SNP) imputation analysis, using data from a whole-genome sequence reference panel of 1070 Japanese individuals and the previous genome-wide association study (1389 PBC patients, 1508 healthy controls). Among SNPs (P < 5.0 × 10
resultsAmong the SNPs in the NFKB1/MANBA region, rs17032850 and rs227361, which changed the binding of transcription factors lymphoid enhancer-binding factor 1 (LEF-1) and retinoid X receptor α (RXRα), respectively, were identified as putative primary functional variants that regulate gene expression. In addition, expression-quantitative trait locus data and gene editing using a clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 system supported the potential role of rs17032850 and rs227361 in regulating NFKB1 and MANBA expression, respectively.
conclusionsWe identified independent putative primary functional variants in NFKB1/MANBA and showed the distinct molecular mechanism by which each putative primary functional variant conferred susceptibility to PBC. Our approach was useful to dissect the pathogenesis not only of PBC, but also other digestive diseases in which NFKB1/MANBA has been reported as a susceptibility locus.
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