A 4-polymorphism risk score predicts steatohepatitis in children with nonalcoholic fatty liver disease

Valerio Nobili, Benedetta Donati, Nadia Panera, Apirom Vongsakulyanon, Anna Alisi, Bruno Dallapiccola, Luca Valenti

Research output: Contribution to journalArticlepeer-review


Objective: Nonalcoholic fatty liver disease (NAFLD) has become the most common cause of chronic liver disease in industrialized countries in adults and children, following the trail of the epidemic diffusion of obesity. Nonalcoholic steatohepatitis (NASH) is a potentially serious form of NAFLD linked with a significant increase in overall and liver-related morbidity and mortality. Because diagnosis still requires liver biopsy, there is urgent need of developing noninvasive early markers. The aim of the present study was to assess whether the simultaneous detection of genetic risk factors could predict NASH. METHOD: We enrolled 152 untreated, consecutive obese children and adolescents with biopsy-proven NAFLD and increased liver enzymes. The PNPLA3 rs738409 C>G (I148 M), SOD2 rs4880 C>T, KLF6 rs3750861 G>A, and LPIN1 rs13412852 C>T polymorphisms were detected by Taqman assays. Results: A multivariate logistic model based on the genetic risk factors significantly predicted NASH (area under the receiver-operating characteristic curve [AUC] 0.75, 95% confidence interval [CI] 0.67-0.82, P

Original languageEnglish
Pages (from-to)632-636
Number of pages5
JournalJournal of Pediatric Gastroenterology and Nutrition
Issue number5
Publication statusPublished - 2014


  • children
  • genetics
  • hepatic fibrosis
  • nonalcoholic fatty liver disease
  • nonalcoholic steatohepatitis

ASJC Scopus subject areas

  • Gastroenterology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)


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