Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE PNPLA3 148M is over-represented in ALD&NAFLD HCC patients, and is associated with occurrence at a less advanced stage of liver disease in ALD&NAFLD. 24155878 2013
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE In conclusion, the -1195GG genotype in COX-2 is a genetic marker for liver disease progression, while the PNPLA3 genotypes are not associated with disease progression in Japanese patients with chronic hepatitis C. 22863264 2012
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 Biomarker group BEFREE This review describes the impact of genetic variants of interleukin 28B (IL28B; also known as interferon-lambda 3), inosine triphosphate pyrophosphatase (ITPA) and patatin-like phospholipase domain-containing 3 (PNPLA3) on therapeutic outcome and liver disease severity in HCV-infected patients. 26250055 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE Genetic variation in both patatin-like phospholipase domain-containing protein-3 (PNPLA3) (I148M) and the transmembrane 6 superfamily member 2 protein (TM6SF2) (E167K) influences severity of liver disease, and serum triglyceride concentrations in non-alcoholic fatty liver disease (NAFLD), but whether either genotype influences the responses to treatments is uncertain. 26272871 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE Recently, the rs738409 rs738409" genes_norm="80339">I148M patatin-like phospholipase domain-containing 3 (PNPLA3) polymorphism has been demonstrated to influence steatosis susceptibility and fibrosis progression in patients with different liver diseases, but no data are yet available for CHB. 23564580 2013
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE Of note, the PNPLA3 risk variant advances fibrosis in the total cohort as well as in the subgroups of patients with viral hepatitis and non-viral liver diseases and contributes 16% of the total cirrhosis risk. 21168459 2011
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE Genetic variants of patatin-like phospholipase domain-containing 3 (PNPLA3) and diabetes are associated with liver disease severity, in patients with chronic hepatitis C (CHC) infection. 25457210 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE The rs738409 genetic variant in the patatin-like phospholipase domain-containing 3 (PNPLA3, adiponutrin) gene has been implicated as a genetic determinant of the entire spectrum of liver diseases, ranging from steatosis, chronic hepatitis, cirrhosis and ultimately to HCC. 23333103 2013
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 Biomarker group 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: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE This review will explore the bidirectional relationship between metabolic syndrome and NAFLD, and will also discuss recent insights from studies of PNPLA3 and TM6SF2 genotypes that may give insight into how and why metabolic syndrome features and liver disease are linked in NAFLD. 26978356 2016
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE This study was conducted to determine whether PNPLA3 rs738409 SNPs affect development and prognosis of hepatocellular carcinoma (HCC) in patients with various liver diseases. 22869157 2013
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 Biomarker group 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: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE The G-allele in position rs738409 of patatin-like phospholipase domain-containing protein 3 (PNPLA3) is associated with an increased hepatic concentration of triglyceride and is a risk factor for advanced liver disease. 23872669 2013
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 Biomarker group BEFREE Defining the precise role of PNPLA3 in the liver lipid metabolism, in order to develop novel therapies for the treatment of liver disease, will be the key of future research. 29935383 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE A second ABC transporter, the hepatic phosphatidylcholine translocase ABCB4, increases the risk for gallstone disease, gallbladder cancer and chronic liver diseases in general, whereas the common PNPLA3 risk variant p.I148M decreases gallstone risk. 30608254 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE PNPLA3 p.I148M and TM6SF2 p.E167K variants do not predispose to liver injury in cholestatic liver diseases: A prospective analysis of 178 patients with PSC. 30161167 2018
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 Biomarker group BEFREE In a few cases (e.g., patatin-like phospholipase domain-containing 3/adiponutrin), steatosis carries a high risk of both liver disease and cardiovascular morbidity/mortality; in other cases (e.g., transmembrane 6 superfamily 2 human gene), dissociation has been observed between the increased risk of liver disease versus cardiovascular disease. 27548720 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE The prevalence of possession of both PNPLA3 and GCKR variant alleles combined was significantly higher in at-risk patients with clinically significant liver disease indicated by serum PIIINP above 11 ng/mL (P = .014). 29493856 2018
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE The presence of the TM6SF2 c.499A allele in the donor (p=0.014), the PNPLA3 c.444G allele in the donor (p<0.001), posttransplant BMI (p<0.001) and serum triglycerides (p=0.047) independently predicted increased liver fat content on multivariable analysis whereas noncirrhotic liver disease as an indication for liver transplantation was associated with lower risk of steatosis (p=0.003). 31356578 2020
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE PNPLA3 and TM6SF2 variants as risk factors of hepatocellular carcinoma across various etiologies and severity of underlying liver diseases. 30289982 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE Association of PNPLA3 Polymorphism with Hepatocellular Carcinoma Development and Prognosis in Viral and Non-Viral Chronic Liver Diseases. 26745088 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE We aimed to assess the prevalence of patatin-like phospholipase domain-containing 3 protein (PNPLA3) gene rs738409 C > G polymorphism in Brazilian individuals with type 2 diabetes and to investigate its association with liver disease severity, diabetic chronic degenerative complications, and metabolic control. 31377187 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE The patatin-like phospholipase domain-containing 3 gene (PNPLA3) and the apolipoprotein C3 gene (APOC3) have been studied in relation to liver steatosis and liver disease outcome. 23808989 2013
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE These data indicate that PNPLA3 is required for HSC activation and that its genetic variant I148M potentiates the profibrogenic features of HSCs, providing a molecular mechanism for the higher risk of progression and severity of liver diseases conferred to patients carrying the I148M variant.(Hepatology 2017;65:1875-1890). 28073161 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE The presence of a PNPLA3 risk allele had no independent impact on liver disease or virological response rates to PEGIFN/RBV therapy in our cohort of HIV/HCV coinfected patients. 26599080 2015