Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 AlteredExpression disease BEFREE In patients with nonalcoholic steatohepatitis (NASH), PNPLA3 GG compared to CC was associated with higher AST levels [38.4±25.3 versus 36.7±40.1IU/L, p=0.0395)] and with the presence of liver fibrosis (≥F2 fibrosis, p=0.0272). 31054980 2020
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE In multivariate models adjusting for histologic features of nonalcoholic steatohepatitis and liver fibrosis, PNPLA3 I148M is associated with a decrease in VLDL particle size. 28362682 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 AlteredExpression disease BEFREE PNPLA3 G was also associated with increased levels of ALT, except in participants with Dominican and South American backgrounds, and with liver fibrosis. 30743004 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE Multiple logistic regression was performed to investigate the association of PNPLA3 G allele with clinical and laboratory variables and with hepatic fibrosis/steatosis. 31377187 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE This study aims to assess the impact of IL28B rs8099917 polymorphism on CHC genotype 4 (G4) susceptibility and liver fibrosis progression individually; and in combination with PNPLA3 rs738409.<b>Patients and methods:</b> IL28B rs8099917 and PNPLA3 rs738409 were genotyped in 150 Egyptian CHC patients and 175 healthy controls using real-time PCR.<b>Results:</b> IL28B rs8099917 genotype distribution significantly differs in healthy individuals versus CHC patients (<i>p</i> = .018); and in low versus advanced fibrosis IL28B (<i>p</i> = .013). 31793339 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 Biomarker disease BEFREE These genetic variations also did not mediate the effect of <i>PNPLA3 rs738409</i> SNP for liver developing liver fibrosis or liver cirrhosis. 30875804 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE The rs738409 C>G p.I148M variant in the patatin-like phospholipase domain containing 3 (PNPLA3)-gene promotes triglyceride accumulation in hepatocytes and hepatic stellate cell activation and has previously been linked to hepatic steatosis/liver fibrosis. 29956823 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE PNPLA3 rs738409 polymorphism appears to be related to the increased progression of liver fibrosis in HCV infected patients. 29674183 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE The Association of PNPLA3, COX-2 and DHCR7 Polymorphisms with Advanced Liver Fibrosis in Patients with HCV Mono- Infection and HCV/HIV Co-Infection 30139224 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE Using a newly developed and validated assay for PNPLA3, we explored the prevalence of gene polymorphisms in a cohort of HCV/HIV-coinfected individuals to determine whether there was an association with insulin resistance or hepatic fibrosis. 30218427 2018
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
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE PNPLA3 genotypes were also associated with higher risk of developing liver fibrosis and cirrhosis in dominant (aOR: 1.98, P=2.20*10-5; aOR: 1.67, P=0.008, respectively) and recessive (aOR: 3.94, P=5.16*10-5; aOR: 3.02, P=0.003, respectively) models. 28338112 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 GeneticVariation disease BEFREE This study assessed the contribution of the PNPLA3 rs738409 polymorphism with regard to the steatosis and degree of liver fibrosis in Brazilian patients diagnosed with chronic hepatitis C. 29258449 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.100 Biomarker disease BEFREE Fetuin B is independently and negatively associated with non-invasive markers of liver fibrosis and PNPLA3 status in NAFLD patients but does not show a correlation with the hepatic lipid content. 28914407 2017
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 GeneticVariation disease BEFREE Contradictory data about the impact of the rs738409 steatosis-related polymorphism within PNPLA3 gene on liver fibrosis progression in HIV/hepatitis C virus (HIV/HCV)-coinfected patients have been reported. 27973562 2016
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 (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 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 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 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 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 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 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 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