Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE In particular, the common I148M variant of the PNPLA3 gene influencing hepatic lipid metabolism influences HCC risk independently of its effect on the progression of liver fibrosis. 25278690 2014
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE Conversely, this enzymatic activity is markedly reduced with purified PNPLA3 148M, a common mutation robustly associated with liver fibrosis and hepatocellular carcinoma development. 24670599 2014
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE Furthermore, using two histologically characterized cohorts encompassing steatosis, steatohepatitis, fibrosis and cirrhosis (combined n=1,074), we demonstrate a new association, independent of potential confounding factors (age, BMI, type 2 diabetes mellitus and PNPLA3 rs738409 genotype), with advanced hepatic fibrosis/cirrhosis. 24978903 2014
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE The PNPLA3 I148M sequence variant favors hepatic lipid accumulation and confers susceptibility to hepatic fibrosis and hepatocellular carcinoma. 25171251 2014
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE The PNPLA3 rs738409 polymorphism is common and may confer a significant risk of NAFLD and advanced liver fibrosis in the Korean population. 25069572 2014
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 Biomarker disease BEFREE The objectives of this study were to determine the association between PNPLA3 and liver fibrosis severity, HCC risk, and HCC prognosis among patients with liver disease. 24445574 2014
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 Biomarker disease BEFREE Allelic variation (rs738409C→G) in adiponutrin (patatin-like phospholipase domain-containing protein 3, PNPLA3) has been associated with hepatic steatosis and liver fibrosis. 23418085 2013
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE The PNPLA3 variant was associated with more severe features of steatohepatitis: steatosis (P < 0.001), lobular inflammation (P < 0.001), and ballooning (P = 0.002), but not with liver fibrosis, anthropometry, or insulin resistance. 23512881 2013
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE The common PNPLA3 (adiponutrin) variant, p.I148M, was identified as a genetic determinant of liver fibrosis. 24152445 2013
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 Biomarker disease BEFREE PNPLA3 p.148M/M genotype was negatively associated with SVR and early viral kinetics independently of steatosis, albeit only in difficult-to-cure G1/4 patients with advanced fibrosis, whereas stratification for the p.148M/M PNPLA3 genotype unmasked an association between IL28B CC genotype and more severe liver fibrosis. 22530607 2012
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE The present study was designed to assess the contribution of these SNPs to disease progression in patients with chronic hepatitis C. The study enrolled 220 Japanese patients with chronic hepatitis C. Three SNPs, -1195 COX-2, PNPLA3 and IL28B (rs8099917), were genotyped in order to analyze their association with hepatic fibrosis and inflammation. 22863264 2012
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE The adiponutrin risk variant is a common genetic determinant of progressive liver fibrosis. 21168459 2011
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE In multivariate analysis, the predictive variables for advanced liver fibrosis were age (≥60) (P=0.005), sex (female) (P=0.004) and rs 738409 PNPLA3 polymorphism (P=0.01); body mass index (BMI) and LFC were not associated with liver fibrosis. 21745307 2011
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. 20373368 2010