PNPLA3-Associated Steatohepatitis: Toward a Gene-Based Classification of Fatty Liver Disease

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PNPLA3-associated steatohepatitis: toward a gene-based classification of fatty liver disease.

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Nonalcoholic fatty liver disease and nonalcoholic steatohepatitis.

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A Sequence Variation (I148M) in PNPLA3 Associated with Nonalcoholic Fatty Liver Disease Disrupts Triglyceride Hydrolysis*

Obesity and insulin resistance are associated with deposition of triglycerides in tissues other than adipose tissue. Previously, we showed that a missense mutation (I148M) in PNPLA3 (patatin-like phospholipase domain-containing 3 protein) is associated with increased hepatic triglyceride content in humans. Here we examined the effect of the I148M substitution on the enzymatic activity and cellu...

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Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease and has an estimated incidence of 20%–30% in the general population and 67%–75% in the obese population. Genetic predisposition can play an important role in development of this disease. Nonsynonymous coding SNP rs738409 C/G (I148Met) in the PNPLA3 gene has been found to be associated with the presence of...

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ژورنال

عنوان ژورنال: Seminars in Liver Disease

سال: 2013

ISSN: 0272-8087,1098-8971

DOI: 10.1055/s-0033-1358525