ArticleJournal of gastroenterology2013
Association of genes involved in bile acid synthesis with the progression of primary biliary cirrhosis in Japanese patients.
Article in Journal of gastroenterology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Personalized Dietary Recommendations Based on Lipid-Related Genetic Variants: A Systematic Review.Frontiers in nutrition · 2022Pooled it
- 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
- Review: Pathogenesis of cholestatic liver diseases.World journal of hepatology · 2020Review
- Interactions Between Regulatory Variants in CYP7A1 (Cholesterol 7α-Hydroxylase) Promoter and Enhancer Regions Regulate CYP7A1 Expression.Circulation. Genomic and precision medicine · 2018Article
- Genetic Variations Associated with Anti-Tuberculosis Drug-Induced Liver Injury.Current pharmacology reports · 2018Article
- NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population.Scientific reports · 2018Article
- Host-related factors explaining interindividual variability of carotenoid bioavailability and tissue concentrations in humans.Molecular nutrition & food research · 2017Review
- Utility of genetic variants to predict prognosis in coronary artery disease patients receiving statin treatment.International journal of clinical and experimental pathology · 2017Article
- Primary biliary cirrhosis degree assessment by acoustic radiation force impulse imaging and hepatic fibrosis indicators.World journal of gastroenterology · 2016Observational
- Molecular changes in hepatic metabolism and transport in cirrhosis and their functional importance.World journal of gastroenterology · 2016Review
- Predictors of liver failure in primary biliary cirrhosis.Upsala journal of medical sciences · 2015Article
- Serum metabolic signatures of primary biliary cirrhosis and primary sclerosing cholangitis.Liver international : official journal of the International Association for the Study of the Liver · 2015Article
- STAT4 gene polymorphisms are associated with susceptibility and ANA status in primary biliary cirrhosis.Disease markers · 2014Article
- The association between bile salt export pump single-nucleotide polymorphisms and primary biliary cirrhosis susceptibility and ursodeoxycholic acid response.Disease markers · 2014Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPatients with primary biliary cirrhosis (PBC) exhibit a variety of clinical manifestations and patterns of disease progression. The aim of this study was to identify genetic determinants of PBC progression.
methodsA total of 52 tag single nucleotide polymorphisms (SNPs) of 11 candidate genes involved in regulating bile acid synthesis were analyzed by polymerase chain reaction (PCR)-restriction fragment length polymorphism, -high resolution melting curve analysis, or -direct DNA sequencing in 315 Japanese patients with PBC.
resultsIn this study, four tag SNPs of CYP7A1 (rs1457043, rs8192870, rs3808607, and rs3824260), two tag SNPs of HNF4A (rs6017340 and 6031587), and one SNP of PPARGC1A (rs8192678) showed a significant association with PBC progression. In addition, a dual luciferase assay revealed that the polymorphism of rs3808607 in CYP7A1 altered the expression of CYP7A1 in HepG2. Specifically, the CYP7A1 promoter carrying the risk G allele for PBC progression induced higher expression of CYP7A1 under both the normal and cholestatic conditions in vitro as compared to another promoter carrying the non-risk T allele.
conclusionThese results suggested that the genetic variants of CYP7A1 and its transcriptional activators (HNF4A and PPARGC1A) may activate bile acid synthesis, resulting in the accumulation of bile acids in hepatocytes and eventually leading to the predisposition to PBC progression. Thus, the regulation of CYP7A1 expression may represent an attractive therapeutic target for cholestatic liver diseases including PBC.
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