Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE A single nucleotide polymorphism in patatin-like phospholipase domain-containing-3 (PNPLA3) gene is associated with higher prevalence of liver damage and HCC, but there are no data from prospective studies of outcomes of patients with this polymorphism. 31419571 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE These data showed that PNPLA3 and TM6SF2 polymorphisms were independently linked to NBNC-HCC but not HBV- or HCV-HCC in Thai populations. 30506232 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Single nucleotide polymorphisms (such as PNPLA3, TM6SF2 and MBOAT7) are related to the susceptibility to the development of HCC and its progression. 31717576 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 AlteredExpression disease BEFREE As expected, overexpression of ATGL in cultured hepatoma (HuH-7) cells depleted the cells of LDs, but unexpectedly, co-expression of PNPLA3(wild type [WT] or 148M) with ATGL inhibited that depletion. 30802989 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE The correlation between patatin-like phospholipase domain-containing protein 3 (<i>PNPLA3</i>) rs738409 polymorphism and hepatocellular carcinoma was investigated by several pilot studies, but the results of these studies were controversial. 30852978 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE KEY MESSAGES: The PNPLA3 148M variant is associated with cirrhosis and hepatocellular carcinoma. 31637480 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Overall results revealed that PNPLA3 rs738409 C > G polymorphism was associated with an increased risk of HCC in the populations studied with various types of etiology under allelic model (OR = 1.59, 95%CI: 1.20-2.10, P = 0.001), dominant model (OR = 1.55, 95%CI: 1.13-2.13, P = 0.007), homozygous model (OR = 2.76, 95%CI: 1.52-5.01, P = 0.001), heterozygous model (OR = 1.31, 95%CI: 1.01-1.69, P = 0.039), and recessive model (OR = 2.42, 95%CI: 1.51-3.87, P < 0.001). 30403964 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Carriage of HSD17B13 rs72613567:TA attenuated the risk for developing cirrhosis associated with PNPLA3 rs738409:G in both men and women but the protective effect against the subsequent development of HCC was only observed in men (p=1.72×10-4; ORallelic, 0.75; 95% CI, 0.64-0.87). 31630428 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE A genetic score including PNPLA3 and TM6SF2 minor alleles showed a progressive significant increased risk of HCC in ALD patients. 30289982 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 AlteredExpression disease BEFREE The pathogenesis of non-alcoholic fatty liver disease (NAFLD) and hepatocellular carcinoma (HCC) has been associated with altered expression of liver-specific genes including pyruvate kinase liver and red blood cell (PKLR), patatin-like phospholipase domain containing 3 (PNPLA3) and proprotein convertase subtilisin/kexin type 9 (PCSK9). 30615941 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE This association was independent from the presence of a PNPLA3 variant, which was also associated with HCC (OR 2.10; 95% CI: 1.20-3.66), and it remained significant after adjustment for male sex, age and aetiology in multivariate analysis. 31484215 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Association between PNPLA3 (rs738409 C>G) variant and hepatocellular carcinoma in Asian chronic hepatitis C patients: A longitudinal study. 29089161 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Carriage of both PNPLA3 rs738409 and TM6SF2 rs58542926 accounts for half of the attributable risk for HCC in this population. 29535416 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease GWASCAT Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers. 29385134 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Correction: Genetic Variants in PNPLA3 and TM6SF2 Predispose to the Development of Hepatocellular Carcinoma in Individuals With Alcohol-Related Cirrhosis. 29895985 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Thus, polymorphisms in MICA, but not in DEPDC5, HCP5 or PNPLA3, are associated with HCC development in Japanese patients with chronic HCV infection. 28928439 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 Biomarker disease BEFREE In conclusion, we identified liver-specific genes linked to NAFLD pathogenesis, such as pyruvate kinase liver and red blood cell (PKLR), or to HCC pathogenesis, such as PKLR, patatin-like phospholipase domain containing 3 (PNPLA3), and proprotein convertase subtilisin/kexin type 9 (PCSK9), all of which are potential targets for drug development. 28827398 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Patatin-like phospholipase domain containing 3 (PNPLA3) rs738409 (encoding the rs738409" genes_norm="80339">I148M variant) has been associated with advanced fibrosis and HCC. 27862719 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE The presence of either PNPLA3 G/G or TM6SF2*/T identified high-risk genotypes for HCC, which were strongly associated with HCC (64/150 vs. 93/361, p=0.0002). 26493626 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Among individuals homozygous for the PNPLA3 G allele (n = 115), the frequency of the JAZF1 rs864745 G allele was significantly higher among DM-HCC individuals than DM-non-HCC individuals (OR 3.44, p = 0.0002). 26337813 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE The aims of this study were (i) to assess the association of two SNPs, rs430397 in GRP78 and rs738409 in PNPLA3 with the risk of developing HCC in a Sicilian association cohort and, (ii) to use a machine learning technique to establish a predictive combinatorial phenotypic model for HCC including rs430397 and rs738409 genotypes and clinical and laboratory attributes. 27888630 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Single nucleotide polymorphisms (SNPs) near the epidermal growth factor (EGF) (rs4444903), IL28B (rs12979860), and PNPLA3 (rs738409) loci are associated with treatment response, fibrosis, and hepatocellular carcinoma in non-transplant hepatitis C, but allograft population data are limited. 26854475 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 AlteredExpression disease BEFREE Steatotic HCC did not differ from HCC without significant steatosis in immunohistochemical expression of FABP1 and SHH and PNPLA3 gene polymorphism. 27380543 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE We evaluated the association between this SNP in PNPLA3 and fibrosis progression and development of HCC among HCV-infected patients. 26305067 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 Biomarker disease BEFREE Recent advances include the identification of PNPLA3 as a modifier of disease outcome across the full spectrum of NAFLD from steatosis to advanced fibrosis and hepatocellular carcinoma; and the discovery of TM6SF2 as a potential "master regulator" of metabolic syndrome outcome, determining not only risk of advanced liver disease, but also cardiovascular disease outcomes. 26378644 2015