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.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Pelusi S,Baselli G,Pietrelli A,Dongiovanni P,Donati B,McCain MV,Meroni M,Fracanzani AL,Romagnoli R,Petta S,Grieco A,Miele L,Soardo G,Bugianesi E,Fargion S,Aghemo A,D'Ambrosio R,Xing C,Romeo S,De Francesco R,Reevesdoi
10.1038/s41598-019-39998-2subject
Has Abstractpub_date
2019-03-06 00:00:00pages
3682issue
1issn
2045-2322pii
10.1038/s41598-019-39998-2journal_volume
9pub_type
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