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 Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. 20373368 2010
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 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 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 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 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 To perform a comprehensive study on independent modulators of liver fibrosis progression and determinants of portal pressure considering immune status, insulin resistance (IR), serum 25-hydroxyvitamin D (25(OH)D) levels, genetic variants of patatin-like phospholipase domain-containing protein 3 (PNPLA3) and interleukin 28B (IL28B) in a thoroughly documented cohort of HIV/hepatitis C-coinfected (HIV/HCV) patients. 24905495 2015
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 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 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 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 When patients were grouped according to their diabetes status, the PNPLA3 genetic variants were associated with advanced liver fibrosis in diabetic patients only, but not in non-diabetic patients. 25457210 2015
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE Finally, we briefly highlight future research that may elucidate the specific mechanisms of the PNPLA3 I148M variant in fibrogenesis, which, in turn, provides a theoretical foundation and valuable experimental data for the clinical management of nonalcoholic fatty liver fibrosis. 25624712 2015
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE In patients with both CHB and NAFLD, these genotypes of PNPLA3 polymorphisms were associated with increased susceptibility to nonalcoholic steatohepatitis (NASH) (NAFLD activity score ≥ 3; P = 0.01-0.03) and liver fibrosis (> 1 Metavir grading; P = 0.01-0.04). 26229402 2015
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE A genetic variant in adiponutrin (PNPLA3) gene, rs738409 C/G, is associated with steatosis, severity, and progression of liver fibrosis in CHC patients, and predicts treatment outcome in difficult-to-cure HCV-infected patients with advanced fibrosis. 26389885 2015
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE PNPLA3 rs738409 (C>G) was associated with the risk of both advanced liver fibrosis and steatosis in patients with CHC, especially among Caucasian populations. 26419236 2016
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 Biomarker disease BEFREE Advanced liver fibrosis was neither associated with PNPLA3 (p = 0.253) nor IL28B-genotype (p = 0.628), but with HCV-GT3 (p = 0.003), higher BMI (p = 0.008) and higher age (p = 0.007). 26599080 2015
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE PNPLA3 rs738409 polymorphism was associated with the severity of liver fibrosis in patients coinfected with HIV and hepatitis C virus, suggesting that this polymorphism might also play a significant role in the progression of hepatic fibrosis in this group of patients. 26760234 2016
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE PNPLA3 rs738409 G allele carriers were found to be more susceptible to the metabolic-related hepatic steatosis, and developed NAFLD and liver fibrosis despite presenting relatively better metabolic statuses and lower risks for carotid atherosclerosis. 26765961 2016
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 Biomarker disease BEFREE Moreover, we provide evidence to indicate that PNPLA3-mediated retinol release may protect against liver fibrosis by inducing a specific signature of proteins involved in extracellular matrix remodelling. 27742777 2016
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 Biomarker disease BEFREE Presence of minor allele (G) of PNPLA3 was also associated with moderate/severe steatosis (≥33%) both in patients with (OR: 2.405 [CI95%: 1.220-4.744], P=0.011) and without MetS (OR: 2.481 [CI95%: 1.172-5.250], P=0.018), but was only associated with NASH (OR: 2.002 [CI95%: 1.062-3.772], P=0.032) and liver fibrosis (OR: 2.646 [CI95%: 1.299-5.389], P=0.007) in patients without MetS. 27908400 2017