articleHepatologyFeb 23, 2010BRONZE OA

Homozygosity for the patatin‐like phospholipase‐3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease†

Istituti di Ricovero e Cura a Carattere Scientifico · Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · +4 more institutions

PubMed
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Abstract

UNLABELLED: Inherited factors play a major role in the predisposition to nonalcoholic fatty liver disease (NAFLD), and the rs738409 C-->G polymorphism of PNPLA3/adiponutrin, encoding for the isoleucine-to-methionine substitution at residue 148 (I148M) protein variant, has recently been recognized as a major determinant of liver fat content. However, the effect of the rs738409 polymorphism on the severity of liver fibrosis in patients with NAFLD is still unknown. In this study, we considered 253 Italian patients, 179 healthy controls, and 71 family trios with an affected child with NAFLD. Analyses were replicated in 321 patients from the United Kingdom. The rs738409 polymorphism was determined by TaqMan assays.…

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648
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Authors

15

Topics & keywords

Keywords
  • Nonalcoholic fatty liver disease
  • Internal medicine
  • Steatosis
  • Endocrinology
  • Fatty liver
  • Genotype
  • Gastroenterology
  • Fibrosis
UN Sustainable Development Goals
  • Good health and well-being
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