Fatty Liver Disease (SA Harrison and J George, Section editors)

Current Hepatology Reports

, Volume 13, Issue 2, pp 97-105

First online:

Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis

  • Silvia SookoianAffiliated withDepartment of Clinical and Molecular Hepatology, Institute of Medical Research A Lanari-IDIM, University of Buenos Aires – National Scientific and Technical Research Council (CONICET)Instituto de Investigaciones Médicas A. Lanari-CONICET Email author 
  • , Carlos J. PirolaAffiliated withDepartment of Molecular Genetics and Biology of Complex Diseases, Institute of Medical Research A Lanari-IDIM, University of Buenos Aires – National Scientific and Technical Research Council (CONICET)Instituto de Investigaciones Médicas A. Lanari-CONICET Email author 

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

Abstract

Nonalcoholic fatty liver disease (NAFLD) is a complex liver disease with worldwide prevalence. Its development involves a myriad of factors, including genetic susceptibility and environmental insults. In this review, we summarize new findings about current genome-wide association studies on NAFLD. In addition, we used a strategy of functional enrichment analysis to integrate all the newly discovered loci into common biological pathways and to explore their role in the pathogenesis of NAFLD. Controversies on the application of genetic testing to predict disease severity are discussed and specifically the role of rs738409 in clinical decision making. Finally, we highlighted significant trends and developments in epigenetic changes and microRNAs associated with disease progression.

Keywords

NAFLD NASH Genetics PNPLA3 Personalized medicine GWAS Risk prediction Epigenetics DNA methylation