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• W2086838245 abstract "Nonalcoholic fatty liver disease is one of the most common hepatic disorders worldwide. Given the high-calorie nutrition of children and adults, nonalcoholic fatty liver disease (NAFLD) is expected to become a major cause of cirrhosis and eventually liver transplantation. Familial clustering and ethnic differences indicate that genetic factors contribute to NAFLD. Recently, the common variant p.I148M of the enzyme adiponutrin (PNPLA3) has emerged as a major genetic determinant of hepatic steatosis and nonalcoholic steatohepatitis as well as its pathobiological sequelae fibrosis, cirrhosis, and hepatocellular cancer. <i>PNPLA3</i> encodes a lipid droplet-associated, carbohydrate-regulated lipogenic and/or lipolytic enzyme. Homozygous carriers of the <i>PNPLA3</i> variant are prone to develop cirrhosis in the absence of other risk factors such as alcohol or viral hepatitis. Here we review the plethora of studies that unraveled the association between PNPLA3 and NAFLD in children and adults, discuss its distinct effects on liver and metabolic traits, and introduce the term <i>PNPLA3</i>-associated steatohepatitis (PASH) as a novel gene-based liver disease. Given the prevalence of the risk allele in 40 to 50% of Europeans, the authors conclude that PNPLA3 should be considered in the diagnostic workup of fatty liver disease and that homozygous risk allele carriers might benefit from careful cancer surveillance." @default.
• W2086838245 created "2016-06-24" @default.
• W2086838245 creator A5013003026 @default.
• W2086838245 creator A5019879976 @default.
• W2086838245 creator A5088702595 @default.
• W2086838245 date "2013-11-12" @default.
• W2086838245 modified "2023-10-16" @default.
• W2086838245 title "PNPLA3-Associated Steatohepatitis: Toward a Gene-Based Classification of Fatty Liver Disease" @default.
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• W2086838245 doi "https://doi.org/10.1055/s-0033-1358525" @default.
• W2086838245 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24222094" @default.
• W2086838245 hasPublicationYear "2013" @default.
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