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Genetic variations in bile acid homeostasis are not overrepresented in alcoholic cirrhosis compared to patients with heavy alcohol abuse and absent liver disease

Many, Natalie ; Stickel, Felix ; Schmitt, Johannes ; Stieger, Bruno ; Soyka, Michael ; Frei, Pascal ; Götze, Oliver ; Müllhaupt, Beat ; Geier, Andreas

In: Mutagenesis, 2012, vol. 27, no. 5, p. 567-572

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    Titre
    • Genetic variations in bile acid homeostasis are not overrepresented in alcoholic cirrhosis compared to patients with heavy alcohol abuse and absent liver disease
    Auteur
    • Many, Natalie. Department of Gastroenterology and Hepatology, University Hospital Zurich (USZ), CH-8091 Zurich, Switzerland
    • Stickel, Felix. Department of Visceral Surgery and Medicine, Inselspital, University of Bern, CH-3010 Bern, Switzerland
    • Schmitt, Johannes. Department of Gastroenterology and Hepatology, University Hospital Zurich (USZ), CH-8091 Zurich, Switzerland
    • Stieger, Bruno. Department of Clinical Pharmacology, University Hospital Zurich (USZ), CH-8091 Zurich, Switzerland
    • Soyka, Michael. Private Hospital Meiringen, Willigen, CH-3860 Meiringen, Switzerland
    • Frei, Pascal. Department of Gastroenterology and Hepatology, University Hospital Zurich (USZ), CH-8091 Zurich, Switzerland
    • Götze, Oliver. Department of Gastroenterology and Hepatology, University Hospital Zurich (USZ), CH-8091 Zurich, Switzerland
    • Müllhaupt, Beat. Department of Gastroenterology and Hepatology, University Hospital Zurich (USZ), CH-8091 Zurich, Switzerland
    • Geier, Andreas. Department of Gastroenterology and Hepatology, University Hospital Zurich (USZ), CH-8091 Zurich, Switzerland
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • Mutagenesis, 2012, vol. 27, no. 5, p. 567-572. Oxford University Press
    Autre version électronique
    Classification
    • Santé
    Identifiant OAI-PMH
    • oai:doc.rero.ch:295122
    Summary
    Increased serum bile salt levels have been associated to a single-nucleotide polymorphism in the bile salt export pump (BSEP; ABCB11) in several acquired cholestatic liver diseases but there is little evidence in alcoholic liver disease (ALD). Furthermore, a crosstalk between vitamin D and bile acid synthesis has recently been discovered. Whether this crosstalk has an influence on the course of ALD is unclear to date. Our aim was to analyse the role of genetic polymorphisms in BSEP and the vitamin D receptor gene (NR1I1) on the emergence of cirrhosis in patients with ALD. Therefore, 511 alcoholic patients (131 with cirrhosis and 380 without cirrhosis) underwent ABCB11 genotyping (rs2287622). Of these, 321 (131 with cirrhosis and 190 without cirrhosis) were also tested for NR1I1 polymorphisms (bat-haplotype: BsmI rs1544410, ApaI rs7975232 and TaqI rs731236). Frequencies of ABCB11 and NR1I1 genotypes and haplotypes were compared between alcoholic patients with and without cirrhosis and correlated to serum bile salt, bilirubin and aspartate aminotransferase levels in those with cirrhosis. Frequencies of ABCB11 and NR1I1 genotypes and haplotypes did not differ between the two subgroups and no significant association between genotypes/haplotypes and liver function tests could be determined for neither polymorphism. We conclude that ABCB11 and NR1I1 polymorphisms are obviously not associated with development of cirrhosis in patients with ALD