Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Reduction of Caloric Intake Might Override the Prosteatotic Effects of the PNPLA3 p.I148M and TM6SF2 p.E167K Variants in Patients with Fatty Liver: Ultrasound-Based Prospective Study. 26745555

2016

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Using a 443 patient training set, protein biomarker discovery was performed using the highly multiplexed SOMAscan<sup>®</sup> proteomic assay, a set of 19 clinical variables, and the steatosis predisposing PNPLA3 rs738409 single nucleotide polymorphism genotype status. 28266614

2017

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic steatosis or liver fibrosis was observed. 24349054

2013

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The PNPLA3 I148M variant is associated with the ultrasonography-determined steatosis degree in Chinese population. 23176674

2012

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE There is an established correlation between the PNPLA3 rs738409 C > G single nucleotide polymorphism (SNP) and hepatic steatosis and fibrosis in hepatitis C virus (HCV) infected patients. 31642820

2019

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The genetic polymorphism with an isoleucine-to-methionine substitution at position 148 (rs738409 C>G) in the patatin-like phospholipase domain protein 3 (PNPLA3) gene confers risk of steatosis. 25964223

2015

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The PNPLA3 rs738409 polymorphism is associated with steatosis severity, hepatocellular ballooning, lobular inflammation, and perivenular fibrosis in pediatric NAFLD. 20648474

2010

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE In this large cohort of histologically proven NAFLD, we confirm the association of the rs738409 G allele with steatosis and describe its association with histological severity. 20684021

2010

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE We determined the frequency of PNPLA3 (rs738409), CSPG3/NCAN (rs2228603), GCKR (rs780094), PPP1R3B (rs4240624), TM6SF (rs8542926), LYPLAL1 (rs12137855) and MBOAT7 (rs626283) by RT-PCR in 117 HIV-positive patients on cART and stratified participants based on their "controlled attenuation parameter" (CAP) into probable (CAP: 215-300 dB/m) and definite (CAP >300 dB/m) hepatic steatosis. 28594920

2017

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The rs738409 SNP in PNPLA3 is associated with an increased risk of steatosis in patients infected with HCV genotypes non-3. 21236304

2011

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Furthermore, the I148M variant represents a major determinant of progression of alcohol related steatohepatitis to cirrhosis, and to influence fibrogenesis and related clinical outcomes in chronic hepatitis C virus hepatitis, and possibly chronic hepatitis B virus hepatitis, hereditary hemochromatosis and primary sclerosing cholangitis. 24222941

2013

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Since DAG (FA18:1) has been implicated in hepatic insulin resistance, the unaltered proportion of DAG (FA18:1) in I148M PNPLA3 carriers with fatty liver may explain the normal insulin sensitivity in these subjects. 30227635

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE However, PNPLA3 rs2294918 E434K decreased PNPLA3 expression, lessening the effect of the I148M variant on the predisposition to steatosis and liver damage. 26605757

2016

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE As PNPLA3 I148M is a strong and inherited determinant of liver fat without affecting insulin resistance and lipid levels, these data suggest that steatosis has a causal role in determining serum Fetuin-A levels. 24828988

2014

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE SNP rs738409 in the adiponutrin gene (PNPLA3) is a well described factor for steatosis. 23870067

2014

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE In multivariate regression analysis, recipients who carried rs738409-GG had a 13.7-fold higher risk of graft steatosis than recipients who carried rs738409-CC (P = .022), independent of recipient age, weight gain after liver transplantation, or the underlying disease. 23872669

2013

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE PNPLA3 rs738409 Polymorphism Predicts Development and Severity of Hepatic Steatosis but Not Metabolic Syndrome in Celiac Disease. 30189691

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Our aim was to assess the impact of PNPLA3 rs738409 G-allele on steatosis in HCV patients. 24927606

2015

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The PNPLA3 (rs738409 C>G) polymorphism favors steatosis and fibrosis progression in CHC. 21488075

2011

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The G-allele of PNPLA3 rs738409 was associated with NAFLD (odds ratio [OR] 1.55, 95% confidence interval 1.13-2.11, P = 0.006) and moderate-to-severe steatosis (OR 3.77, 95% confidence interval 1.78-7.98, P = 0.001) adjusted for age, sex, and BMI standard deviation score. 25522307

2015