Buch, Stephan and Stickel, Felix and Trepo, Eric and Way, Michael and Herrmann, Alexander and Nischalke, Hans Dieter and Brosch, Mario and Rosendahl, Jonas and Berg, Thomas and Ridinger, Monika and Rietschel, Marcella and McQuillin, Andrew and Frank, Josef and Kiefer, Falk and Schreiber, Stefan and Lieb, Wolfgang and Soyka, Michael and Semmo, Nasser and Aigner, Elmar and Datz, Christian and Schmelz, Renate and Brueckner, Stefan and Zeissig, Sebastian and Stephan, Anna-Magdalena and Wodarz, Norbert and Deviere, Jacques and Clumeck, Nicolas and Sarrazin, Christoph and Lammert, Frank and Gustot, Thierry and Deltenre, Pierre and Voelzke, Henry and Lerch, Markus M. and Mayerle, Julia and Eyer, Florian and Schafmayer, Clemens and Cichon, Sven and Noethen, Markus M. and Nothnagel, Michael and Ellinghaus, David and Huse, Klaus and Franke, Andre and Zopf, Steffen and Hellerbrand, Claus and Moreno, Christophe and Franchimont, Denis and Morgan, Marsha Y. and Hampe, Jochen (2015) A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis. NATURE GENETICS, 47 (12). 1443-+. ISSN 1061-4036, 1546-1718
Full text not available from this repository. (Request a copy)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 in the MBOAT7 (P = 1.03 x 10(-9)) and TM6SF2 (P = 7.89 x 10(-10)) genes as new risk loci and confirmed rs738409 in PNPLA3 as an important risk locus for alcohol-related cirrhosis (P = 1.54 x 10(-48)) at a genome-wide level of significance. These three loci have a role in lipid processing, suggesting that lipid turnover is important in the pathogenesis of alcohol-related cirrhosis.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | FATTY LIVER-DISEASE; GENETIC PREDISPOSITION; CONFERS SUSCEPTIBILITY; END-POINTS; DEPENDENCE; FIBROSIS; PROGRESSION; VARIANT; TRANSPLANTATION; POLYMORPHISM; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Psychiatrie und Psychotherapie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 06 May 2019 07:16 |
| Last Modified: | 06 May 2019 07:16 |
| URI: | https://pred.uni-regensburg.de/id/eprint/4394 |
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