Genetics in liver disease: new concepts

Curr Opin Gastroenterol. 2011 May;27(3):231-9. doi: 10.1097/MOG.0b013e3283444862.


Purpose of review: Recent advancements in genotyping technology have contributed to an accelerated dissemination of information on sequence variation associated with hepatobiliary diseases and/or quantitative traits.

Recent findings: Since the first genome-wide association study (GWAS) on genetic gallstone risk in 2007, a total of more than 25 GWAS related to the field have been reported. The identification of the IL-28B genotype as a critical host factor of natural and treatment-related outcomes in hepatitis C virus infection opens the avenue of personalized medicine and individual risk assessment by genetic information. By contrast, the second recent top-hit variant adiponutrin (PNPLA3) associated with liver fat content and fibrosis progression illustrates the potential of GWAS to identify novel pathobiological pathways. Another emerging research topic is in the designation of genetic markers for specific cirrhosis-related complications, such as spontaneous bacterial peritonitis (NOD2) and hepatic encephalopathy (glutaminase), of potential future relevance in prioritizing patients for preemptive treatment strategies.

Summary: In this article we critically discuss new concepts in the genetics of hepatobiliary diseases with a special focus on the advantages and limitations of the GWAS approach. An update on relevant recent GWAS and selected candidate gene study data will be given.

Publication types

  • Review

MeSH terms

  • Autoimmune Diseases / genetics
  • Cholestasis / genetics
  • Fatty Liver / genetics
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Hepatitis, Viral, Human / genetics
  • Humans
  • Interferons
  • Interleukins / genetics
  • Lipase / genetics
  • Liver Diseases / genetics*
  • Membrane Proteins / genetics
  • Non-alcoholic Fatty Liver Disease


  • interferon-lambda, human
  • Interleukins
  • Membrane Proteins
  • Interferons
  • Lipase
  • adiponutrin, human