A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis
JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
 
ID 4377186
Author(s) 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
Author(s) at UniBasel Cichon, Sven
Year 2015
Title A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis
Journal Nature Genetics
Volume 47
Number 12
Pages / Article-Number 1443-+
Keywords Acyltransferases/*genetics; Adult; Aged; Case-Control Studies; Female; Genetic Predisposition to Disease; *Genome-Wide Association Study; Humans; Lipase/*genetics; Liver Cirrhosis, Alcoholic/*genetics; Male; Membrane Proteins/*genetics; Middle Aged; Polymorphism, Single Nucleotide/*genetics; Risk Factors
Abstract Alcohol misuse is the leading cause of cirrhosis and the second most common indication for liver transplantation in the Western world. 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.
Publisher Nature Publishing Group
ISSN/ISBN 1061-4036 ; 1546-1718
URL https://doi.org/10.5167/uzh-119315
edoc-URL https://edoc.unibas.ch/61531/
Full Text on edoc No
Digital Object Identifier DOI 10.1038/ng.3417
PubMed ID http://www.ncbi.nlm.nih.gov/pubmed/26482880
ISI-Number WOS:000365813200016
Document type (ISI) Article
 
   

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