Genetics of alcoholic liver disease and non-alcoholic steatohepatitis

Clin Med (Lond). 2018 Apr 1;18(Suppl 2):s54-s59. doi: 10.7861/clinmedicine.18-2-s54.

Abstract

Alcohol-related liver disease (ARLD) and non-alcoholic fatty liver disease (NAFLD) are leading causes of chronic liver disease globally. Both ARLD and NAFLD are multifactorial and refer to a spectrum of disease severity, ranging from steatosis through steatohepatitis to fibrosis and cirrhosis. Both diseases exhibit substantial inter-patient variation in long-term outcomes and are best considered complex disease traits where genetic and environmental factors interact to mediate disease severity and progression. Here, we briefly review the current literature describing the best validated genetic modifiers that influence severity of these liver conditions, including variants of the genes PNPLA3, TM6SF2 and MBOAT7, which have also been implicated in lipid dysregulation.

Keywords: ARLD; NAFLD; PNPLA3; TM6SF2; cirrhosis; gene.

Publication types

  • Review

MeSH terms

  • Acyltransferases
  • Disease Progression
  • Genetic Association Studies
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Lipase
  • Liver Diseases, Alcoholic / genetics*
  • Liver Diseases, Alcoholic / physiopathology
  • Membrane Proteins
  • Non-alcoholic Fatty Liver Disease / genetics*
  • Non-alcoholic Fatty Liver Disease / physiopathology
  • Polymorphism, Single Nucleotide
  • Risk Factors

Substances

  • Membrane Proteins
  • TM6SF2 protein, human
  • Acyltransferases
  • MBOAT7 protein, human
  • Lipase
  • adiponutrin, human