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Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis

Strnad, Pavel ; Buch, Stephan ; Hamesch, Karim ; Fischer, Janett ; Rosendahl, Jonas ; Schmelz, Renate ; Brueckner, Stefan ; Brosch, Mario ; Heimes, Carolin V ; Woditsch, Vivien ; Scholten, David ; Nischalke, Hans Dieter ; Janciauskiene, Sabina ; Mandorfer, Mattias ; Trauner, Michael ; Way, Michael J ; McQuillin, Andrew ; Reichert, Matthias C ; Krawczyk, Marcin ; Casper, Markus ; Lammert, Frank ; Braun, Felix ; von Schönfels, Witigo ; Hinz, Sebastian ; Burmeister, Greta ; Hellerbrand, Claus ; Teufel, Andreas ; Feldman, Alexandra ; Schattenberg, Joern M ; Bantel, Heike ; Pathil, Anita ; Muenevver, Demir ; Kluwe, Johannes ; Boettler, Tobias ; Ridinger, Monika ; Wodarz, Norbert ; Soyka, Michael ; Rietschel, Marcella ; Kiefer, Falk ; Weber, Thomas ; Marhenke, Silke ; Vogel, Arndt ; Hinrichsen, Holger ; Canbay, Ali ; Schlattjan, Martin ; Sosnowsky, Katharina ; Sarrazin, Christoph ; von Felden, Johann ; Geier, Andreas ; Deltenre, Pierre ; Sipos, Bence ; Schafmayer, Clemens ; Nothnagel, Michael ; Aigner, Elmar ; Datz, Christian ; Stickel, Felix ; Morgan, Marsha Yvonne ; Hampe, Jochen ; Berg, Thomas ; Trautwein, Christian



Abstract

Objective Homozygous alpha1-antitrypsin (AAT) deficiency increases the risk for developing cirrhosis, whereas the relevance of heterozygous carriage remains unclear. Hence, we evaluated the impact of the two most relevant AAT variants (' Pi* Z' and ' Pi* S'), present in up to 10% of Caucasians, on subjects with non-alcoholic fatty liver disease (NAFLD) or alcohol misuse. Design We analysed ...

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