Genetics and epigenetics in the fibrogenic evolution of chronic liver diseases

Best Pract Res Clin Gastroenterol. 2011 Apr;25(2):269-80. doi: 10.1016/j.bpg.2011.02.007.


Recent years have seen unprecedented progress in the identification and characterization of genetic information related to chronic liver diseases (CLDs). However, despite the conceptual benefit in early recognition of at-risk populations amenable to pre-emptive treatment and/or surveillance strategies, recent genomic research in the field has placed focus on unravelling the genetic architecture of disease susceptibility, while data on genetic markers anticipating an accelerated fibrogenesis in an individual are still limited. Likewise, sequence variation assigning rapid fibrogenic evolution common to CLDs irrespective of etiology are poorly defined aside from PNPLA3 (adiponutrin) as a prominent exception. The emerging field of epigenetics in hepatology has mostly been studied under the perspective of gene regulation, less so as a heritable alteration in gene activity. In this article we will critically discuss recent findings in genomic hepatology with special focus on the (epi)genetic contribution to the fibrogenic evolution of CLDs.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cholangitis, Sclerosing / genetics
  • Chronic Disease
  • Epigenomics*
  • Fatty Liver / genetics
  • Genetic Markers
  • Hepatitis C / genetics*
  • Humans
  • Liver Cirrhosis / genetics*
  • Non-alcoholic Fatty Liver Disease


  • Genetic Markers