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PNPLA3 expression and its impact on the liver: current perspectives

Authors Bruschi FV, Tardelli M, Claudel T, Trauner M

Received 4 August 2017

Accepted for publication 20 September 2017

Published 6 November 2017 Volume 2017:9 Pages 55—66

DOI https://doi.org/10.2147/HMER.S125718

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Colin Mak

Peer reviewer comments 5

Editor who approved publication: Dr Gerry Lake-Bakaar


Francesca Virginia Bruschi, Matteo Tardelli, Thierry Claudel, Michael Trauner

Hans Popper Laboratory of Molecular Hepatology, Division of Gastroenterology & Hepatology, Department of Internal Medicine III, Medical University of Vienna, Austria


Abstract: A single-nucleotide polymorphism occurring in the sequence of the human patatin-like phospholipase domain-containing 3 gene (PNPLA3), known as I148M variant, is one of the best characterized and deeply investigated variants in several clinical scenarios, because of its tight correlation with increased risk for developing hepatic steatosis and more aggressive part of the disease spectrum, such as nonalcoholic steatohepatitis, advanced fibrosis and cirrhosis. Further, the I148M variant is positively associated with alcoholic liver diseases, chronic hepatitis C–related cirrhosis and hepatocellular carcinoma. The native gene encodes for a protein that has not yet a fully defined role in liver lipid metabolism and, according to recent observations, seems to be divergently regulated among distinct liver cells type, such as hepatic stellate cells. Therefore, the aim of this review is to collect the latest data regarding PNPLA3 expression in human liver and to analyze the impact of its genetic variant in human hepatic pathologies. Moreover, a description of the current biochemical and metabolic data pertaining to PNPLA3 function in both animal models and in vitro studies is summarized to allow a better understanding of the relevant pathophysiological role of this enzyme in the progression of hepatic diseases.

Keywords: adiponutrin, liver disease, genetic polymorphism, gene expression, metabolism

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