rs738409, PNPLA3

N. diseases: 88
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Hepatic steatosis and PNPLA3 I148M variant are associated with serum Fetuin-A independently of insulin resistance. 24828988 2014
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE A discrete trait analysis of NAFLD showed that rs58542926 was associated with a modest risk of fatty liver (P = 0.038; odds ratio [OR]: 1.37; 95% confidence interval [CI]: 1.02-1.84); nevertheless, conditioning on patatin-like phospholipase domain-containing 3 (PNPLA3)-rs738409 abolished this effect. 25302781 2015
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE A recent genome-wide association study identified genetic polymorphism (rs738409 C>G) in the PNPLA3/adiponutrin gene associated with liver steatosis. 21334404 2011
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE A single genetic variant, PNPLA3 I148M, has been widely associated with increased hepatic steatosis. 22978414 2012
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE A single nucleotide polymorphism (SNP), the rs738409, in the patatin like phospholipase 3 gene (PNPLA3) has been recently associated with increased hepatic steatosis and ALT levels in adults and children. 22629460 2012
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Among 270 HBV-infected patients, concurrent fatty liver was found in 107 patients (39.6%) and was associated with metabolic risks, cirrhosis (P = 0.016) and PNPLA3 rs738409 CG/GG genotype (P = 0.002). 27547913 2017
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Among the patients with BMI < 24 kg/m(2), carriage of the rs738409 GG genotype was the only factor associated with hepatic steatosis (OR/CI:3.44/1.824-6.500, P < 0.001). 26139292 2015
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Association of PNPLA3 rs738409 polymorphism with liver steatosis but not with cirrhosis in patients with HBV infection: Systematic review with meta-analysis. 29218813 2018
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Associations between the rs738409 polymorphism of the PNPLA3 gene genotype GG and hepatic steatosis and advanced fibrosis were observed. 29258449 2017
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Associations of the single nucleotide polymorphisms (SNP) PNPLA3 rs738409 and TM6SF2 rs58542926 with hepatic steatosis have recently been established. 26847197 2016
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Before 2008, candidate gene studies based on prior knowledge of pathophysiology of fatty liver yielded conflicting results.In 2008, Romeo et al. published the first genome wide association study and reported the strongest genetic signal for the presence of fatty liver (PNPLA3, patatin-like phospholipase domain containing 3; rs738409). 22093607 2012
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE CT-defined fatty liver is common among men at risk for HIV infection and is associated with greater visceral adiposity, HOMA-IR, and PNPLA3 (rs738409). 24642579 2014
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Expression of PNPLA3(I148M), but not PNPLA3(WT), in liver recapitulated the fatty liver phenotype as well as other metabolic features associated with this allele in humans. 23023705 2012
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE G allele carriers of the SNP rs738409 had higher liver fat (P < 0.0001) and an odds ratio of 2.38 (95% CI 1.37-4.20) for having fatty liver compared to C allele homozygotes. 19651814 2009
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE General linear models were used to detect interactive effects between the PNPLA3 rs738409 genotype and 4 year changes in body weight on liver steatosis and glucose metabolism. 30673802 2019
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Human immunodeficiency virus (HIV)-induced metabolic abnormalities and antiretroviral therapy (ART), genetic factors, most importantly the rs738409 C > G p.I148M variant in the patatin-like phospholipase domain containing 3 (PNPLA3)-gene, as well as hepatitis C virus (HCV) coinfection may all cause hepatic steatosis (HS). 31067123 2019
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE In this study, we show that only in subjects with hepatic steatosis, the OXFAs are associated with the CK-18 and that this association is modulated by the PNPLA3 rs738409 variant. 23815500 2014
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Meta-analysis showed that PNPLA3 rs738409 polymorphism exerted strong influence not only on fatty liver but also on the histological injury. 30762732 2019
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Moreover, we genotyped the same patients for the patatin-like phospholipase-containing domain 3 (PNPLA3) I148M polymorphism, which is implicated in the development of liver steatosis. 25250621 2014
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic steatosis or liver fibrosis was observed. 24349054 2013
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Patatin-like phospholipase domain-containing 3 I148M affects liver steatosis in patients with chronic hepatitis B. 23564580 2013
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE PNPLA3 rs738409 Polymorphism Associated with Hepatic Steatosis and Advanced Fibrosis in Patients with Chronic Hepatitis C Virus: A Meta-Analysis. 26419236 2016
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation 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
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE PNPLA3 rs738409, GCKR rs780094 and TM6SF2 rs58542926 variants were independent risk factors of hepatic steatosis and elevated ALT levels. 29314568 2018
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE PNPLA3 rs738409 Polymorphism Predicts Development and Severity of Hepatic Steatosis but Not Metabolic Syndrome in Celiac Disease. 30189691 2018