Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease.
Aged
Apolipoprotein B-100
/ genetics
Carcinoma, Hepatocellular
/ etiology
Case-Control Studies
Cholesterol, HDL
/ blood
Female
Genetic Predisposition to Disease
Glial Cell Line-Derived Neurotrophic Factor Receptors
/ genetics
Humans
Liver Neoplasms
/ etiology
Male
Middle Aged
Non-alcoholic Fatty Liver Disease
/ complications
Reproducibility of Results
Risk Factors
Sequestosome-1 Protein
/ genetics
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
06 03 2019
06 03 2019
Historique:
received:
05
09
2018
accepted:
23
01
2019
entrez:
8
3
2019
pubmed:
8
3
2019
medline:
22
10
2020
Statut:
epublish
Résumé
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
Identifiants
pubmed: 30842500
doi: 10.1038/s41598-019-39998-2
pii: 10.1038/s41598-019-39998-2
pmc: PMC6403344
doi:
Substances chimiques
APOB protein, human
0
Apolipoprotein B-100
0
Cholesterol, HDL
0
GFRA1 protein, human
0
Glial Cell Line-Derived Neurotrophic Factor Receptors
0
SQSTM1 protein, human
0
Sequestosome-1 Protein
0
Types de publication
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
3682Subventions
Organisme : Cancer Research UK
ID : 26813
Pays : United Kingdom
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