Current Hepatology Reports

, Volume 13, Issue 2, pp 97–105

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

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

Abbreviations

ALT

Alanine-aminotransferase

CT

Computed tomography

GWAS

Genome-wide association study

IR

Insulin resistance

MetSyn

Metabolic syndrome

miRNA

microRNA

NAFLD

Nonalcoholic fatty liver disease

NASH

Nonalcoholic steatohepatitis

PNPLA3

Patatin-like phospholipase domain containing 3

PPARGC1A

Peroxisome proliferator-activated receptor gamma coactivator 1α

SNP

Single nucleotide polymorphism

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Department of Clinical and Molecular Hepatology, Institute of Medical Research A Lanari-IDIMUniversity of Buenos Aires – National Scientific and Technical Research Council (CONICET)Ciudad Autónoma de Buenos AiresArgentina
  2. 2.Department of Molecular Genetics and Biology of Complex Diseases, Institute of Medical Research A Lanari-IDIMUniversity of Buenos Aires – National Scientific and Technical Research Council (CONICET)Ciudad Autónoma de Buenos AiresArgentina
  3. 3.Instituto de Investigaciones Médicas A. Lanari-CONICETBuenos AiresArgentina

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