PNPLA3 in end-stage liver disease: Alcohol consumption, hepatocellular carcinoma development, and transplantation-free survival

Background and Aims The rs738409 variant (I148M) of the patatin‐like phospholipase domain‐containing protein 3 (PNPLA3) gene is associated with several liver malfunctions. Its impact on end‐stage liver disease has not been addressed yet. Methods The I148M polymorphism was genotyped in a well‐charact...

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Veröffentlicht in:	Journal of gastroenterology and hepatology 2014-07, Vol.29 (7), p.1477-1484
Hauptverfasser:	Friedrich, Kilian, Wannhoff, Andreas, Kattner, Stefan, Brune, Maik, Hov, Johannes Roksund, Weiss, Karl Heinz, Antoni, Christoph, Dollinger, Matthias, Neumann-Haefelin, Christoph, Seufferlein, Thomas, Schemmer, Peter, Schirmacher, Peter, Stremmel, Wolfgang, Gotthardt, Daniel Nils
Format:	Artikel
Sprache:	eng
Schlagworte:	alcoholic liver disease Alleles and therapy cancers: biology Carcinoma, Hepatocellular - genetics Carcinoma, Hepatocellular - mortality clinical Cohort Studies diagnosis European Continental Ancestry Group - genetics Genetic Association Studies Genotype hepatocellular carcinoma Humans Lipase - genetics Liver Diseases, Alcoholic - genetics Liver Diseases, Alcoholic - mortality Liver Neoplasms - genetics Liver Neoplasms - mortality Liver Transplantation Membrane Proteins - genetics metabolism Mutation Polymorphism, Genetic - genetics Retrospective Studies Severity of Illness Index Survival Rate
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Zusammenfassung:	Background and Aims The rs738409 variant (I148M) of the patatin‐like phospholipase domain‐containing protein 3 (PNPLA3) gene is associated with several liver malfunctions. Its impact on end‐stage liver disease has not been addressed yet. Methods The I148M polymorphism was genotyped in a well‐characterized cohort of 421 Caucasian patients and retrospectively analyzed from the time of enrollment at Eurotransplant. Results The G allele of the I148M variant was significantly overrepresented in patients with alcoholic liver disease (ALD, P
ISSN:	0815-9319 1440-1746
DOI:	10.1111/jgh.12540