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Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease.

Journal article
Authors Serena Pelusi
Guido Baselli
Alessandro Pietrelli
Paola Dingiovanni
Bendetta Donati
Misti Vanette McCain
Marica Meroni
Anna Ludovica Fracanzani
Renato Romagnoli
Salvatore Petta
Antonio Grieco
Luca Miele
Giorgio Soardo
Elisabetta Bugianesi
Silva Fargion
Alessio Aghemo
Roberta D'Ambrosio
Chao Xing
Stefano Romeo
Raffaele De Francesco
Helen Louise Reeves
Luca Vittorio Carlo Reeves
Published in Scientific reports
Volume 9
Issue 1
Pages 3682
ISSN 2045-2322
Publication year 2019
Published at Institute of Medicine, Department of Molecular and Clinical Medicine
Pages 3682
Language en
Links dx.doi.org/10.1038/s41598-019-39998...
www.ncbi.nlm.nih.gov/entrez/query.f...
Subject categories Cardiovascular medicine

Abstract

Nonalcoholic fatty liver disease (NAFLD) is a rising cause of hepatocellular carcinoma (HCC). We examined whether inherited pathogenic variants in candidate genes (n = 181) were enriched in patients with NAFLD-HCC. To this end, we resequenced peripheral blood DNA of 142 NAFLD-HCC, 59 NAFLD with advanced fibrosis, and 50 controls, and considered 404 healthy individuals from 1000 G. Pathogenic variants were defined according to ClinVar, likely pathogenic as rare variants predicted to alter protein activity. In NAFLD-HCC patients, we detected an enrichment in pathogenic (p = 0.024), and likely pathogenic variants (p = 1.9*10-6), particularly in APOB (p = 0.047). APOB variants were associated with lower circulating triglycerides and higher HDL cholesterol (p < 0.01). A genetic risk score predicted NAFLD-HCC (OR 4.96, 3.29-7.55; p = 5.1*10-16), outperforming the diagnostic accuracy of common genetic risk variants, and of clinical risk factors (p < 0.05). In conclusion, rare pathogenic variants in genes involved in liver disease and cancer predisposition are associated with NAFLD-HCC development.

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