Cited by 565Alcohol Consumption and Health EffectsGenetic Associations and EpidemiologyLiver Disease Diagnosis and Treatment

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

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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·2015·Nature Genetics

DOI 10.1038/ng.3417

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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. 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 × 10(-9)) and TM6SF2 (P = 7.89 × 10(-10)) genes as new risk loci and confirmed rs738409 in PNPLA3 as an important risk locus for alcohol-related cirrhosis (P = 1.54 × 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.

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Authors: Buch, S., Stickel, F., Trépo, E., Way, M., Herrmann, A., Nischalke, H. D., Brosch, M., Rosendahl, J., Berg, T., Ridinger, M., Rietschel, M., McQuillin, A., Frank, J., Kiefer, F., Schreiber, S., Lieb, W., Soyka, M., Semmo, N., Aigner, E., Datz, C., Schmelz, R., Brückner, S., Zeissig, S., Stephan, A.-M., Wodarz, N., Devière, J., Clumeck, N., Sarrazin, C., Lammert, F., Gustot, T., Deltenre, P., Völzke, H., Lerch, M. M., Mayerle, J., Eyer, F., Schafmayer, C., Cichon, S., Nöthen, M. M., Nothnagel, M., Ellinghaus, D., Huse, K., Franke, A., Zopf, S., Hellerbrand, C., Moreno, C., Franchimont, D., Morgan, M. Y., & Hampe, J.
Affiliations: University Hospital Carl Gustav Carus (DE)
University Hospital Zurich (CH)
Université Libre de Bruxelles (BE)
The Royal Free Hospital (GB)
University of Bonn (DE)
University Hospital Leipzig (DE)
Kanton Aargau (CH)
Heidelberg University (DE)
University College London (GB)
University Hospital Schleswig-Holstein (DE)
Christian-Albrechts-Universität zu Kiel (DE)
Ludwig-Maximilians-Universität München (DE)
University Hospital of Bern (CH)
University of Salzburg (AT)
University of Regensburg (DE)
University Hospital Frankfurt (DE)
Universitätsklinikum des Saarlandes (DE)
Universitätsmedizin Greifswald (DE)
TUM Klinikum (DE)
University Hospital of Basel (CH)
University of Cologne (DE)
Leibniz Institute on Aging - Fritz Lipmann Institute (FLI) (DE)
Universitätsklinikum Erlangen (DE)
University Hospital Regensburg (DE)
Corresponding author: Stickel, Felix
ORCID: 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
Zeissig, Sebastian
Wodarz, Norbert
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
Hellerbrand, Claus
Moreno, Christophe
Franchimont, Denis
Morgan, Marsha Y
Hampe, Jochen
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2015-10-19
Volume: 47
Issue: 12
Pages: 1443-1448
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng.3417
OpenAlex: W1830916533
Cited by: 565
References: 49
Citations by year: 2026: 30 · 2025: 38 · 2024: 51 · 2023: 72 · 2022: 54 · 2021: 69 · 2020: 82 · 2019: 57 · 2018: 44 · 2017: 43 · 2016: 21 · 2015: 2
FWCI: 29.10
Type: journal article
Language: en
Open access: green
www.zora.uzh.ch
Licence: other-oa
www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Kölner Universitäts PublikationsServer (Universität zu Köln) (publishedVersion)
Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, other-oa)
Bern Open Repository and Information System (University of Bern) (submittedVersion)
Dépôt institutionnel de l'Université libre de Bruxelles (Université Libre de Bruxelles) (submittedVersion)
UCL Discovery (University College London) (submittedVersion)
University of Regensburg Publication Server (University of Regensburg) (submittedVersion)
IRIS (submittedVersion)
mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
SERVAL (Université de Lausanne) (submittedVersion)
Zurich Open Repository and Archive (University of Zurich) (submittedVersion, other-oa)
Zurich Open Repository and Archive (University of Zurich)
Funders: National Eye Institute (01EY1103)
Topics: Health Sciences › Medicine › Pathology and Forensic Medicine › Alcohol Consumption and Health Effects
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Health Sciences › Medicine › Hepatology › Liver Disease Diagnosis and Treatment
Keywords: alcoholic cirrhosis, PNPLA3, MBOAT7, TM6SF2, genetic susceptibility loci, rs738409, lipid metabolism, alcohol abuse
MeSH terms: Acyltransferases, Adult, Aged, Female, Humans, Lipase, Liver Cirrhosis, Alcoholic, Male, Membrane Proteins, Middle Aged, Risk Factors, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Phospholipases A2, Calcium-Independent, Genome-Wide Association Study

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

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