Buch, Stephan, Stickel, Felix, Trepo, Eric ORCID: 0000-0003-0475-3934, Way, Michael ORCID: 0000-0001-7750-5857, Herrmann, Alexander, Nischalke, Hans Dieter ORCID: 0000-0002-3457-0023, Brosch, Mario ORCID: 0000-0001-8983-6557, Rosendahl, Jonas, Berg, Thomas, Ridinger, Monika, Rietschel, Marcella, McQuillin, Andrew ORCID: 0000-0003-1567-2240, Frank, Josef, Kiefer, Falk, Schreiber, Stefan, Lieb, Wolfgang, Soyka, Michael, Semmo, Nasser, Aigner, Elmar, Datz, Christian, Schmelz, Renate, Brueckner, Stefan, Zeissig, Sebastian ORCID: 0000-0001-5124-0897, Stephan, Anna-Magdalena, Wodarz, Norbert, Deviere, Jacques, Clumeck, Nicolas, Sarrazin, Christoph, Lammert, Frank, Gustot, Thierry ORCID: 0000-0002-5537-9607, Deltenre, Pierre, Voelzke, Henry, Lerch, Markus M. ORCID: 0000-0002-9643-8263, Mayerle, Julia ORCID: 0000-0002-3666-6459, Eyer, Florian ORCID: 0000-0002-4753-2747, Schafmayer, Clemens, Cichon, Sven, Noethen, Markus M., Nothnagel, Michael ORCID: 0000-0001-8305-7114, Ellinghaus, David ORCID: 0000-0002-4332-6110, Huse, Klaus ORCID: 0000-0003-3854-1884, Franke, Andre ORCID: 0000-0003-1530-5811, Zopf, Steffen, Hellerbrand, Claus, Moreno, Christophe, Franchimont, Denis, Morgan, Marsha Y. and Hampe, Jochen ORCID: 0000-0002-2421-6127 (2015). A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis. Nature Genet., 47 (12). S. 1443 - 1451. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

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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: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Buch, StephanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stickel, FelixUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Trepo, EricUNSPECIFIEDorcid.org/0000-0003-0475-3934UNSPECIFIED
Way, MichaelUNSPECIFIEDorcid.org/0000-0001-7750-5857UNSPECIFIED
Herrmann, AlexanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nischalke, Hans DieterUNSPECIFIEDorcid.org/0000-0002-3457-0023UNSPECIFIED
Brosch, MarioUNSPECIFIEDorcid.org/0000-0001-8983-6557UNSPECIFIED
Rosendahl, JonasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berg, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ridinger, MonikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rietschel, MarcellaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McQuillin, AndrewUNSPECIFIEDorcid.org/0000-0003-1567-2240UNSPECIFIED
Frank, JosefUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kiefer, FalkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schreiber, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lieb, WolfgangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soyka, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Semmo, NasserUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Aigner, ElmarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Datz, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmelz, RenateUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brueckner, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zeissig, SebastianUNSPECIFIEDorcid.org/0000-0001-5124-0897UNSPECIFIED
Stephan, Anna-MagdalenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wodarz, NorbertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Deviere, JacquesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Clumeck, NicolasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sarrazin, ChristophUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lammert, FrankUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gustot, ThierryUNSPECIFIEDorcid.org/0000-0002-5537-9607UNSPECIFIED
Deltenre, PierreUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Voelzke, HenryUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lerch, Markus M.UNSPECIFIEDorcid.org/0000-0002-9643-8263UNSPECIFIED
Mayerle, JuliaUNSPECIFIEDorcid.org/0000-0002-3666-6459UNSPECIFIED
Eyer, FlorianUNSPECIFIEDorcid.org/0000-0002-4753-2747UNSPECIFIED
Schafmayer, ClemensUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cichon, SvenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Noethen, Markus M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nothnagel, MichaelUNSPECIFIEDorcid.org/0000-0001-8305-7114UNSPECIFIED
Ellinghaus, DavidUNSPECIFIEDorcid.org/0000-0002-4332-6110UNSPECIFIED
Huse, KlausUNSPECIFIEDorcid.org/0000-0003-3854-1884UNSPECIFIED
Franke, AndreUNSPECIFIEDorcid.org/0000-0003-1530-5811UNSPECIFIED
Zopf, SteffenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hellerbrand, ClausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moreno, ChristopheUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Franchimont, DenisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Morgan, Marsha Y.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hampe, JochenUNSPECIFIEDorcid.org/0000-0002-2421-6127UNSPECIFIED
URN: urn:nbn:de:hbz:38-386289
DOI: 10.1038/ng.3417
Journal or Publication Title: Nature Genet.
Volume: 47
Number: 12
Page Range: S. 1443 - 1451
Date: 2015
Publisher: NATURE PUBLISHING GROUP
Place of Publication: NEW YORK
ISSN: 1546-1718
Language: English
Faculty: Faculty of Mathematics and Natural Sciences
Divisions: Faculty of Mathematics and Natural Sciences > Department of Biology > Institute for Genetics
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
FATTY LIVER-DISEASE; GENETIC PREDISPOSITION; CONFERS SUSCEPTIBILITY; END-POINTS; DEPENDENCE; FIBROSIS; PROGRESSION; VARIANT; TRANSPLANTATION; POLYMORPHISMMultiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/38628

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