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 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 Recently, the PNPLA3 gene I148M (rs738409) variant was demonstrated to be strongly associated with hepatic steatosis in obese adults. 20546964 2010
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 SNP rs738409 in PNPLA3 was significantly associated with liver density (P=0.0075) and hepatic steatosis (P=0.0350), but not with blood glucose, HbA(1c), total cholesterol, triglycerides, high-density or low-density lipoprotein levels or liver function tests (P=0.15-0.96). 21665509 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 This gain of function provides a plausible biochemical mechanism for the development of liver steatosis in subjects carrying the I148M variant. 22560221 2012
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 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 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 The I148M PNPLA3 polymorphism influences serum adiponectin in patients with fatty liver and healthy controls. 22898488 2012
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Several studies confirmed that the I148M variant predisposes towards the full spectrum of liver damage associated with fatty liver: from simple steatosis to steatohepatitis and progressive fibrosis. 24222941 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 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 Recently, the common variant p.I148M of the enzyme adiponutrin (PNPLA3) has emerged as a major genetic determinant of hepatic steatosis and nonalcoholic steatohepatitis as well as its pathobiological sequelae fibrosis, cirrhosis, and hepatocellular cancer. 24222094 2013
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE The amount of abdominal fat can increase the association of PNPLA3 p.I148M with liver steatosis. 23808989 2013
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE The G allele of rs738409 (PNPLA3) and the T allele of rs780094 (GCKR) were associated with HS with a high level of ALT (odds ratio [OR], 1.36; P = .01; and OR, 1.30; P = .03, respectively). 23416328 2013
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 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 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 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 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 The association of PNPLA3 p.I148M with liver steatosis increased with the greater amount of abdominal fat, irrespective of BMI. 25986529 2015
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE The PNPLA3 rs738409 variant influences histological liver damage in Japanese patients with chronic hepatitis C. The G allele homozygotes are at higher risk for hepatic steatosis, severe necroinflammation, and advanced fibrosis. 25543233 2015
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE The Impact of PNPLA3 rs738409 SNP on Liver Fibrosis Progression, Portal Hypertension and Hepatic Steatosis in HIV/HCV Coinfection. 26599080 2015