Genetic contributions to NAFLD: leveraging shared genetics to uncover systems biology

Nat Rev Gastroenterol Hepatol. 2020 Jan;17(1):40-52. doi: 10.1038/s41575-019-0212-0. Epub 2019 Oct 22.

Abstract

Nonalcoholic fatty liver disease (NAFLD) affects around a quarter of the global population, paralleling worldwide increases in obesity and metabolic syndrome. NAFLD arises in the context of systemic metabolic dysfunction that concomitantly amplifies the risk of cardiovascular disease and diabetes. These interrelated conditions have long been recognized to have a heritable component, and advances using unbiased association studies followed by functional characterization have created a paradigm for unravelling the genetic architecture of these conditions. A novel perspective is to characterize the shared genetic basis of NAFLD and other related disorders. This information on shared genetic risks and their biological overlap should in future enable the development of precision medicine approaches through better patient stratification, and enable the identification of preventive and therapeutic strategies. In this Review, we discuss current knowledge of the genetic basis of NAFLD and of possible pleiotropy between NAFLD and other liver diseases as well as other related metabolic disorders. We also discuss evidence of causality in NAFLD and other related diseases and the translational significance of such evidence, and future challenges from the study of genetic pleiotropy.

Publication types

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

MeSH terms

  • 17-Hydroxysteroid Dehydrogenases / genetics
  • Acyltransferases / genetics
  • Adaptor Proteins, Signal Transducing / genetics
  • Carcinoma, Hepatocellular / genetics
  • Causality
  • Disease Progression
  • Genetic Pleiotropy
  • Genetic Predisposition to Disease
  • Humans
  • Lipase / genetics
  • Liver Cirrhosis, Alcoholic / genetics
  • Liver Neoplasms / genetics
  • Membrane Proteins / genetics
  • Mendelian Randomization Analysis
  • Metabolic Syndrome / genetics
  • Non-alcoholic Fatty Liver Disease / genetics*
  • Systems Biology

Substances

  • Adaptor Proteins, Signal Transducing
  • GCKR protein, human
  • Membrane Proteins
  • TM6SF2 protein, human
  • 17-Hydroxysteroid Dehydrogenases
  • HSD17B13 protein, human
  • Acyltransferases
  • MBOAT7 protein, human
  • Lipase
  • adiponutrin, human