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A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis

Buch, Stephan ; Stickel, Felix ; Trépo, Eric ; Way, Michael ; Herrmann, Alexander ; Nischalke, Hans Dieter ; Brosch, Mario ; Rosendahl, Jonas ; Berg, Thomas ; Ridinger, Monika ; Rietschel, Marcella ; McQuillin, Andrew ; Frank, Josef ; Kiefer, Falk ; Schreiber, Stefan ; Lieb, Wolfgang ; Soyka, Michael ; Semmo, Nasser ; Aigner, Elmar ; Datz, Christian ; Schmelz, Renate ; Brückner, Stefan ; Zeissig, Sebastian ; Stephan, Anna-Magdalena ; Wodarz, Norbert ; Devière, Jacques ; Clumeck, Nicolas ; Sarrazin, Christoph ; Lammert, Frank ; Gustot, Thierry ; Deltenre, Pierre ; Völzke, Henry ; Lerch, Markus M ; Mayerle, Julia ; Eyer, Florian ; Schafmayer, Clemens ; Cichon, Sven ; Nöthen, Markus M ; Nothnagel, Michael ; Ellinghaus, David ; Huse, Klaus ; Franke, Andre ; Zopf, Steffen ; Hellerbrand, Claus ; Moreno, Christophe ; Franchimont, Denis ; Morgan, Marsha Y ; Hampe, Jochen



Abstract

Alcohol misuse is the leading cause of cirrhosis and the second most common indication for liver transplantation in the Western world(1-3). We performed a genome-wide association study for alcohol-related cirrhosis in individuals of European descent (712 cases and 1,426 controls) with subsequent validation in two independent European cohorts (1,148 cases and 922 controls). We identified variants ...

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