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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 adiponutrin risk variant is a common genetic determinant of progressive liver fibrosis. 21168459 2011