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; ... (2015). A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis. Nature genetics, 47(12), pp. 1443-1448. Nature America 10.1038/ng.3417

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gastro-intestinal, Liver and Lung Disorders (DMLL) > Clinic of Visceral Surgery and Medicine > Hepatology
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Hepatologie
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Hepatologie

UniBE Contributor:

Stickel, Felix and Semmo, Nasser

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1061-4036

Publisher:

Nature America

Language:

English

Submitter:

Lilian Karin Smith-Wirth

Date Deposited:

31 Mar 2016 14:58

Last Modified:

31 Mar 2016 14:58

Publisher DOI:

10.1038/ng.3417

PubMed ID:

26482880

BORIS DOI:

10.7892/boris.77700

URI:

https://boris.unibe.ch/id/eprint/77700

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