Association of genes involved in bile acid synthesis with the progression of primary biliary cirrhosis in Japanese patients

Inamine, Tatsuo; Higa, Shingo; Noguchi, Fumie; Kondo, Shinji; Omagari, Katsuhisa; Yatsuhashi, Hiroshi; Tsukamoto, Kazuhiro; Nakamura, Minoru

doi:10.1007/s00535-012-0730-9

Cited by 24 publications

(15 citation statements)

References 32 publications

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“…In order to better characterize practical and robust surrogate markers for predicting long-term outcomes and to better understand the mechanisms underlying disease progression in PBC, a prospective cohort study of biochemical response and genetic approaches including genome-wide association study is currently underway. [26][27][28][29][30][31][32]…”

Section: Discussionmentioning

confidence: 99%

Autoantibody status and histological variables influence biochemical response to treatment and long‐term outcomes in Japanese patients with primary biliary cirrhosis

Nakamura

Kondo

Tanaka

et al. 2014

Hepatology Research

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Section: Discussionmentioning

confidence: 99%

Autoantibody status and histological variables influence biochemical response to treatment and long‐term outcomes in Japanese patients with primary biliary cirrhosis

Nakamura

Kondo

Tanaka

et al. 2014

Hepatology Research

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“…CYP7A1 genetic variants have been associated with defects in cholesterol and bile acid homeostasis [71]. Some of the variants are associated with higher susceptibility to cholesterol or bile acid-related human diseases, including gallbladder stone disease [72, 73], coronary artery disease [74], and biliary cirrhosis [75]. A SNP (rs3808607) in the CYP7A1 gene is also associated with a higher susceptibility to tuberculosis infection in a Moroccan population [76].…”

Section: Specific Molecular Mechanisms Of Isoniazid/rifampicin-inducementioning

confidence: 99%

Genetic Variations Associated with Anti-Tuberculosis Drug-Induced Liver Injury

Bao

Rasmussen

et al. 2018

Curr Pharmacol Rep

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Purpose of this Review In order to combat the development of drug resistance, the clinical treatment of tuberculosis requires the combined use of several anti-tuberculosis (anti-TB) drugs, including isoniazid and rifampicin. Combinational treatment approaches are suggested by the World Health Organization (WHO) and are widely accepted throughout the world. Unfortunately, a major side effect of the treatment is the development of anti-tuberculosis drug-induced liver injury (AT-DILI). Many factors contribute to isoniazid- and rifampicin-mediated AT-DILI and genetic variations are among the most common factors. The purpose of this review is to provide information on genetic variations associated with isoniazid- and rifampicin-mediated AT-DILI. Recent Findings The genetic variations associated with AT-DILI have been identified in the genomic regions within or near genes encoding proteins in the following pathways: drug metabolizing enzymes (NAT2, CYP2E1, and GSTs), accumulation of bile acids, lipids, and heme metabolites (CYP7A1, BSEP, UGTs, and PXR), immune adaptation (HLAs and TNF-α), and oxidant challenge (TXNRD1, SOD1, BACH1, and MAFK). Summary The information summarized in this review considers the genetic bases of risk factors contributing to AT-DILI and provides information that may help for future studies. Some of the implicated genetic variations can be used in the design of genetic tests and serve as biomarkers for the prediction of isoniazid- and rifampicin-mediated AT-DILI risk in personalized medicine.

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“…In late-stage PBC patients, HNF4α expression is reduced [15]. Furthermore, polymorphisms in the coding sequence of HNF4α have been related to PBC progression [46]. Yet, no pharmacological approaches have been developed to target HNF4α in cholestatic liver diseases.…”

Section: Nrs In Liver Pathophysiologymentioning

confidence: 99%

Nuclear Receptors in Acute and Chronic Cholestasis

Gonzalez-Sanchez

Firrincieli

Housset

et al. 2015

Dig Dis

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Background: Nuclear receptors (NRs) form a family of 48 members. NRs control hepatic processes such as bile acid homeostasis, lipid metabolism and mechanisms involved in fibrosis and inflammation. Due to their central role in the regulation of hepatoprotective mechanisms, NRs are promising therapeutic targets in cholestatic disorders. Key Messages: NRs can be classified into five different physiological clusters. NRs from the ‘bile acids and xenobiotic metabolism' and from the ‘lipid metabolism and energy homeostasis' clusters are strongly expressed in the liver. Furthermore, NRs from these clusters, such as farnesoid X receptor α (FXRα), pregnane X receptor (PXR) and peroxisome proliferator-activated receptors (PPARs), have been associated with the pathogenesis and the progression of cholestasis. The latter observation is also true for vitamin D receptor (VDR), which is barely detectable in the whole liver, but has been linked to cholestatic diseases. Involvement of VDR in cholestasis is ascribed to a strong expression in nonparenchymal liver cells, such as biliary epithelial cells, Kupffer cells and hepatic stellate cells. Likewise, NRs from other physiological clusters with low hepatic expression, such as estrogen receptor α (ERα) or reverse-Erb α/β (REV-ERB α/β), may also control pathophysiological processes in cholestasis. Conclusions: In this review, we will describe the impact of individual NRs on cholestasis. We will then discuss the potential role of these transcription factors as therapeutic targets.

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Association of genes involved in bile acid synthesis with the progression of primary biliary cirrhosis in Japanese patients

Cited by 24 publications

References 32 publications

Autoantibody status and histological variables influence biochemical response to treatment and long‐term outcomes in Japanese patients with primary biliary cirrhosis

Autoantibody status and histological variables influence biochemical response to treatment and long‐term outcomes in Japanese patients with primary biliary cirrhosis

Genetic Variations Associated with Anti-Tuberculosis Drug-Induced Liver Injury

Nuclear Receptors in Acute and Chronic Cholestasis

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