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Liver Int . 2020 Jul;40

Genetic variants of UDP-glucuronosyltransferase 1A genes are associated with disease presentation and outcome in primary sclerosing cholangitis

Christian Kurts, Florent Ginhoux, Ulf Panzer, Elena Mitsi, Beatriz Carniel, Jesús Reiné, Jamie Rylance, Seher Zaidi, Alessandra Soares-Schanoski, Victoria Connor, Andrea M Collins, Andreas Schlitzer, Elissavet Nikolaou, Carla Solórzano, Sherin Pojar, Helen Hill, Angela D Hyder-Wright, Kondwani C Jambo, Marco R Oggioni, Megan De Ste Croix, Stephen B Gordon, Simon P Jochems, Daniela M Ferreira, Stephanie Fischinger, Jonathan K Fallon, Ashlin R Michell, Thomas Broge, Todd J Suscovich, Hendrik Streeck, Galit Alter, Laura Schaupp, Sabine Muth, Leif Rogell, Michael Kofoed-Branzk, Felix Melchior, Stefan Lienenklaus, Stephanie C Ganal-Vonarburg, Matthias Klein, Fabian Guendel, Tobias Hain, Kristian Schütze, Ulrike Grundmann, Vanessa Schmitt, Martina Dorsch, Julia Spanier, Pia-Katharina Larsen, Thomas Schwanz, Sven Jäckel, Christoph Reinhardt, Tobias Bopp, Sven Danckwardt, Karsten Mahnke, Gitta Anne Heinz, Mir-Farzin Mashreghi, Pawel Durek, Ulrich Kalinke, Oliver Kretz, Tobias B Huber, Siegfried Weiss, Christoph Wilhelm, Andrew J Macpherson, Hansjörg Schild, Andreas Diefenbach, Hans Christian Probst, Aglaja Kopf, Jörg Renkawitz, Robert Hauschild, Irute Girkontaite, Kerry Tedford, Jack Merrin, Oliver Thorn-Seshold, Dirk Trauner, Hans Häcker, Klaus-Dieter Fischer, Eva Kiermaier, Michael Sixt, Sonali Pechlivanis, Susanne Moebus, Nils Lehmann, Raimund Erbel, Amir A Mahabadi, Per Hoffmann, Karl-Heinz Jöckel, Markus M Nöthen, Hagen S Bachmann, Heinz Nixdorf Recall Study Investigative Group, Tobias J Weismüller, Taotao Zhou, Sandra Kalthoff, Henrike Lenzen, Michael P Manns, Christian P Strassburg

Background and aims: Primary sclerosing cholangitis (PSC) is a progressive cholestatic liver disease without a curative medical therapy. The human UDP-glucuronosyltransferases 1A play a major role in the detoxification and elimination of bilirubin, bile acids and xenobiotics. Whether genetic UGT1A variants determine course and outcome of PSC has not yet been described.

PMID: 32378294