The Frequent Adiponutrin PNPLA3 Variant p.Ile148Met Is Associated with Early Liver Injury: Analysis of a German Pediatric CohortReport as inadecuate

The Frequent Adiponutrin PNPLA3 Variant p.Ile148Met Is Associated with Early Liver Injury: Analysis of a German Pediatric Cohort - Download this document for free, or read online. Document in PDF available to download.

Gastroenterology Research and Practice - Volume 2015 2015, Article ID 205079, 6 pages -

Research Article

Department of Medicine II, Saarland University Medical Center, Saarland University, 66421 Homburg, Germany

Laboratory of Metabolic Liver Diseases, Department of General, Transplant and Liver Surgery, Medical University of Warsaw, 02-091 Warsaw, Poland

Klinik für Innere Medizin II, Klinikum Mannheim, Universität Heidelberg, 68135 Mannheim, Germany

Department of Nutritional Medicine, Universität Hohenheim, 70599 Stuttgart, Germany

Department of Nutritional Sciences, SD Model Systems of Molecular Nutrition, Friedrich-Schiller-Universität, 07743 Jena, Germany

Received 16 October 2014; Revised 5 March 2015; Accepted 5 March 2015

Academic Editor: Antoni Castells

Copyright © 2015 Marcin Krawczyk et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Introduction. The common adiponutrin PNPLA3 variant p.Ile148Met is associated with liver injury. Here, we investigate the association of this polymorphism with hepatic and metabolic traits in a pediatric cohort. Patients and Methods. The study cohort comprised 142 German children age 5–9 years, 98 overweight, 19 children with NAFLD. Results. Overweight children presented with increased serum ALT and GGT activities. ALT activities differed significantly between carriers of different PNPLA3 genotypes in the entire study cohort, in normal weight children and in children younger than 7 years . Carriers of the prosteatotic PNPLA3 genotype p.148Met-Met displayed higher ALT activities as compared to children with the frequent genotype p.148Ile-Ile . The BMI was however a stronger predictor of ALT activities compared to the PNPLA3 genotype and , resp

The variant was associated with increased serum glucose levels and HOMA index in carriers of the p.148Ile-Met genotype but did not affect other metabolic traits or the presence of NAFLD. Discussion. The frequent PNPLA3 variant p.Ile148Met is associated with serum ALT activities already at a young age.

Author: Marcin Krawczyk, Roman Liebe, Ina B. Maier, Anna Janina Engstler, Frank Lammert, and Ina Bergheim



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