Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 AlteredExpression disease BEFREE We used real-time polymerase chain reaction (PCR) analysis to analyze the hepatic expression of PNPLA3 and lipid metabolism-related genes in 55 morbidly obese subjects with normal liver histology (NL, n = 18), simple steatosis (SS, n = 20), and non-alcoholic steatohepatitis (NASH, n = 17). 27128907 2016
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 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: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 AlteredExpression disease BEFREE The up-regulation of expression of hepatic genes related to liver steatosis (CPT1A, FASN, LEPR, RXRA, IGFBP1, PPARGC1A and SLC2A4) was detected in our rhesus model, as was the down-regulation of such genes (CYP7A1, HMGCR, GCK and PNPLA3) and the up-regulation of expression of hepatic genes related to liver cancer (E2F1, OPCML, FZD7, IGFBP1 and LEF1). 26442469 2015
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 AlteredExpression disease BEFREE PNPLA3 expression in Hispanics could be decisive in NAFLD pathogenesis, it's highly prevalent and it's a key to condition and determine the spectrum associated, SS, NASH and fibrosis. 29055919 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 AlteredExpression disease BEFREE Reducing pnpla3 expression prevented hepatic steatosis, which could be attributed to decreased fatty acid esterification measured by the incorporation of [U-(13) C]-palmitate into hepatic triglyceride. 23175050 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 AlteredExpression disease BEFREE Our results provide evidence that PNPLA3 expression is an early signal/signature of carbohydrate-induced lipogenesis, but its expression is not associated with steatosis per se. 25060692 2014
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE PNPLA3 may be an important key to understand the mechanisms discriminating fatty liver with and without metabolic consequences. 19651814 2009
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE Recent studies have implicated PNPLA3 in the pathogenesis of hepatic steatosis. 20480550 2010
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE The PNPLA3 p.148 I/M or M/M variants and CD4(+) cell count were the only independent predictors of severe steatosis in patients with HCV non-3 genotypes. 26806136 2016
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE PNPLA3 carriers showed higher steatosis, portal inflammation and HpSC niche activation compared to wild-type patients. 29150621 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE Although African Americans are less susceptible to fatty liver than European Americans, PNPLA3 appears to be a risk locus for hepatic steatosis in diabetic African Americans. 21665509 2011
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE IL28B and PNPLA3 are associated with hepatic steatosis prevalence and severity in Caucasians with G1 HCV, suggesting differing potential genetic risk pathways to steatosis. 22543885 2012
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE Overall, one-third of HIV/HCV-coinfected patients are affected by HS with PI-based ART and PNPLA3 impacting on HS prevalence. 31067123 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE Steatohepatitis was associated with all-cause mortality [Hazard ratio (HR) 3.1, 95%CI: 1.3-7.3, P = 0.006] and HCC (HR 2.8, 95%CI: 0.9-9.2, P = 0.078), but no significant association was observed for PNPLA3. 25284145 2015
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease CTD_human Multivariate logistic regression identified PNPLA3 G allele (OR: 2.469, CI 95%: 1.203-5.068; p=0.014) and pediatric age (OR: 4.348; 1.577-11.905; p=0.004) as independent variables associated with moderate/severe steatosis. 25678388 2015
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE Conclusion: Taken together, these findings are consistent with a model in which PNPLA3(148M) promotes steatosis by CGI-58-dependent inhibition of ATGL on LDs. 30802989 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE Based on a large monocentric cohort of Caucasian heavy drinkers we could recently provide evidence that PNPLA3 GG primarily correlated with signs of liver damage (steatohepatitis, ballooning) but less with steatosis. 30362098 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE Taken together, our results show that the steatosis associated with PNPLA3(148M) is caused by accumulation of PNPLA3 on LDs. 31019090 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE ASO-mediated silencing of Pnpla3 reduced liver steatosis (p = 0.038) in homozygous Pnpla3 148M/M knock-in mutant mice but not in wild-type littermates fed a steatogenic high-sucrose diet. 30772256 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE Translation of candidates from these studies into ALD has established a role for variants in genes including PNPLA3 and potentially TM6SF2 across the disease spectrum from steatosis, through cirrhosis to hepatocellular carcinoma. 26676812 2015
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE PNPLA3 was associated with a portal pattern of steatosis, inflammation and fibrosis. 30444569 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE In fact, the probability of more severe steatosis was higher (37%, 95% CI 26-48%) for the PNPLA3 M/M versus I/M genotype and lower (-12%, 95% CI -21% to -3%) for the I/I versus I/M genotype (Somers' D for repeated measures). 24074360 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 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
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE Steatosis in PNPLA3-associated NAFLD is not accompanied by features of metabolic syndrome. 24731669 2014
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE We assessed the familial correlation of PRO-C3 concentration, the shared gene effects between PRO-C3 concentration and liver steatosis and fibrosis, and the association between PRO-C3 concentration and genetic variants in the patatin-like phospholipase domain-containing 3 (PNPLA3), transmembrane 6 superfamily member 2 (TM6SF2), membrane-bound O-acyltransferase domain-containing (MBOAT), and glucokinase regulator (CGKR) genes. 30859582 2019