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The genetics of NAFLD

Lookup NU author(s): Professor Quentin AnsteeORCiD, Professor Chris Day

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Abstract

NAFLD is a disease spectrum ranging from simple steatosis, through steatohepatitis to fibrosis and, ultimately, cirrhosis. This condition is characterized by considerable interpatient variability in terms of severity and rate of progression: although a substantial proportion of the population is at risk of progressive disease, only a minority experience associated morbidity. As such, NAFLD is best considered a complex disease trait resulting from environmental exposures acting on a susceptible polygenic background and comprising multiple independent modifiers. Much ongoing research is focused on identifying the genetic factors that contribute to NAFLD pathogenesis. This Review describes the current status of the field, discussing specific genetic and epigenetic modifiers, including the mechanisms through which genes identified by genome-wide association studies, including PNPLA3, influence disease progression.

Publication metadata

Author(s): Anstee QM, Day CP

Publication type: Review

Publication status: Published

Journal: Nature Reviews Gastroenterology and Hepatology

Year: 2013

Volume: 10

Issue: 11

Pages: 645-655

Print publication date: 01/11/2013

ISSN (print): 1759-5045

ISSN (electronic): 1759-5053

URL: http://dx.doi.org/10.1038/nrgastro.2013.182

DOI: 10.1038/nrgastro.2013.182

PubMed id: 24061205

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