rs738409, PNPLA3

N. diseases: 88
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Such potential examples of genotypes that are associated with a dissociation between liver disease and metabolic syndrome are patatin-like phospholipase domain-containing protein-3 (PNPLA3) (I148M) and transmembrane 6 superfamily member 2 protein (TM6SF2) (E167K) genotypes. 26978356 2016
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Levels of sMICA were highly correlated to liver disease severity in chronic hepatitis C patients who carried the MICA rs738409 A allele. 28427234 2017
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation 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
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation 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
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE The I148M mutation impedes triglyceride hydrolysis in vitro, and its carriers have an increased risk of developing severe liver disease. 21525193 2011
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Lean patients with rs738409 C>G in PNPLA3 should be monitored for liver disease progression; studies including large series of patients with lean NAFLD will clarify the possible role of TM6SF2 polymorphisms. 28554682 2017
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE A variant (rs738409 C>G, encoding for p.I148M) in the PNPLA3 gene is associated with liver damage in chronic liver diseases. 24114809 2014
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation 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
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE PNPLA3 variant rs738409 has been identified as important progression factor in patients with ALD and NAFLD, the most common liver diseases worldwide. 30362098 2019
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Aim of this study was to evaluate whether the I148M PNPLA3 polymorphism influences serum adiponectin in liver diseases and healthy controls. 22898488 2012
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of liver disease and hepatocellular carcinoma occurrence. 21745286 2011
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Previous studies revealed that the common sequence variant I148M in patatin-like phospholipase domain-containing protein 3 (PNPLA3) is associated with liver fat content and liver diseases, but not with insulin resistance. 26439088 2015
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Impact of patatin-like phospholipase domain-containing 3 gene polymorphism (rs738409) on severity of liver disease in HIV/hepatitis C virus-coinfected patients. 26760234 2016
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation 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
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Various studies have established a strong link between the 148 isoleucine to methionine protein variant (I148M) of PNPLA3 and liver diseases, including nonalcoholic fatty liver disease (NAFLD). 25624712 2015
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE In this observational cross-sectional study, we staged 899 patients with different chronic liver diseases non-invasively by transient elastography (Fibroscan) and genotyped them for variant adiponutrin (rs738409) by PCR-based assays. 21168459 2011
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE All in all, studies suggest that the I148M polymorphism may represent a general modifier of fibrogenesis in liver diseases. 24222941 2013
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE The p.I148M variant leads to macrovescicular steaosis and predisposes to liver disorders from steatohepatitis to fibrosis. 30308089 2018
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE The common patatin-like phospholipase domain-containing protein 3 (PNPLA3) variant I148M predisposes to nonalcoholic liver disease but not its metabolic sequelae. 31434800 2019
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE APOC3 rs2070666 Is Associated with the Hepatic Steatosis Independently of PNPLA3 rs738409 in Chinese Han Patients with Nonalcoholic Fatty Liver Diseases. 27059980 2016
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Several studies have reported an association between the genetic variant rs738409 (G) in the PNPLA3 gene and the risk of cirrhosis in various liver diseases. 23069476 2013
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation 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
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE The human patatin-like phospholipase domain-containing-3 (PNPLA3) gene rs738409 C>G polymorphism is associated with several types of liver disease. 25378656 2015
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Recently, the rs738409 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
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation 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