Article
Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis.
Gut - 1 Jun 2019
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, Demir Muenevver, 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 excerpt
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 multicentric case-control...
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