Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease
| Autor: | Anna Ludovica Fracanzani, Misti Vanette McCain, Alessandro Pietrelli, Paola Dongiovanni, Chao Xing, Salvatore Petta, Antonio Grieco, Marica Meroni, Elisabetta Bugianesi, Silvia Fargion, Giorgio Soardo, Stefano Romeo, Raffaele De Francesco, Alessio Aghemo, Renato Romagnoli, Guido Baselli, Benedetta Donati, Serena Pelusi, Roberta D'Ambrosio, Luca Miele, Luca Valenti, Helen L. Reeves |
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| Přispěvatelé: | Pelusi, Serena, Baselli, Guido, Pietrelli, Alessandro, Dongiovanni, Paola, Donati, Benedetta, McCain, Misti Vanette, Meroni, Marica, Fracanzani, Anna Ludovica, Romagnoli, Renato, Petta, Salvatore, Grieco, Antonio, Miele, Luca, Soardo, Giorgio, Bugianesi, Elisabetta, Fargion, Silvia, Aghemo, Alessio, D'Ambrosio, Roberta, Xing, Chao, Romeo, Stefano, De Francesco, Raffaele, Reeves, Helen Louise, Valenti, Luca Vittorio Carlo |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male Candidate gene Apolipoprotein B lcsh:Medicine Gastroenterology Liver disease chemistry.chemical_compound 0302 clinical medicine Non-alcoholic Fatty Liver Disease Risk Factors Nonalcoholic fatty liver disease Sequestosome-1 Protein Genetic risk HCC lcsh:Science Multidisciplinary biology Liver Neoplasms Middle Aged 3. Good health Cholesterol Hepatocellular carcinoma Apolipoprotein B-100 Female Aged Carcinoma Hepatocellular Case-Control Studies Cholesterol HDL Genetic Predisposition to Disease Glial Cell Line-Derived Neurotrophic Factor Receptors Humans Reproducibility of Results medicine.medical_specialty HDL Settore BIO/18 - GENETICA digestive system Article 03 medical and health sciences Internal medicine medicine Gene business.industry lcsh:R Carcinoma nutritional and metabolic diseases Hepatocellular medicine.disease digestive system diseases 030104 developmental biology chemistry NASH HCC biology.protein lcsh:Q genetic business 030217 neurology & neurosurgery |
| Zdroj: | Scientific Reports Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019) |
| Popis: | 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 −16), outperforming the diagnostic accuracy of common genetic risk variants, and of clinical risk factors (p |
| Databáze: | OpenAIRE |
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