Key result
Genetic factors, particularly a nonsynonymous polymorphism in the PNPLA3 gene, are important risk determinants for the extent of steatosis and fibrosis in nonalcoholic fatty liver disease.
Genetic factors, particularly a polymorphism in the PNPLA3 gene, play a significant role in determining the susceptibility and severity of nonalcoholic fatty liver disease.
PNPLA3 genotyping may refine NAFLD risk assessment; leaves open whether it alters management or warrants prospective trials.
Nonalcoholic fatty liver disease (NAFLD) in most patients involves only simple hepatic steatosis; however, a minority develop progressive steatohepatitis. Family studies and inter-ethnic differences in susceptibility suggest that genetic factors may be important risk determinants for progressive disease. Polymorphisms in genes affecting lipid metabolism, cytokines, fibrotic mediators and oxidative stress may be associated with steatohepatitis and/or fibrosis, but most of these findings require replication. A recent finding that a nonsynonymous polymorphism in the PNPLA3 gene predicts the extent of steatosis in NAFLD has been replicated in at least eight studies, with several studies also demonstrating an association with fibrosis. A new genome-wide association study has identified several additional novel associations with NAFLD severity. Other disease genes may be identified by similar approaches in the future.
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Daly et al. (2011) conducted a review in Nonalcoholic fatty liver disease (NAFLD). Genetic factors (e.g., PNPLA3 polymorphism) was evaluated on Susceptibility and severity of NAFLD (steatosis, steatohepatitis, fibrosis). Genetic factors, particularly a nonsynonymous polymorphism in the PNPLA3 gene, are important risk determinants for the extent of steatosis and fibrosis in nonalcoholic fatty liver disease.
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