Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE We studied the impact of rs738409 on clinical and biological parameters, together with histological staging of steatosis and fibrosis. 21334404

2011

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 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 To identify the impact of I148M variant on clinical risk factors of NAFLD, we recruited 1363 generally healthy Korean males after excluding alcoholic and secondary causes of hepatic steatosis. 26148225

2015

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE This study aimed to confirm the association of the transmembrane 6 superfamily member 2 (TM6SF2) E167K variant with non-alcoholic fatty liver disease (NAFLD) and the degree of steatosis, as well as the additive effect of body mass index (BMI) or the patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M and TM6SF2 E167K variants in NAFLD. 31054977

2020

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE This patient exhibited liver steatosis; he was neither diabetic, nor obese or alcoholic, but is a carrier of 2 polymorphisms, p.Ile148Met (rs738409) and p.Glu167Lys (rs58542926) on PNPLA3 and TM6SF2 gene, respectively, previously shown to be associated with nonalcoholic steatosis and fibrosis evolution. 28711549

2018

dbSNP: rs738409
rs738409
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

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 The severity of steatosis was critically associated with rs738409 (OR=3.25; 95% CI: 1.72-6.52, FDR-adjusted P = 0.0070). 30444569

2019

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The protective effect of statins on steatohepatitis was stronger in subjects not carrying the I148M PNPLA3 risk variant (p=0.02 for interaction), as statins were negatively associated with steatohepatitis in patients negative (p<0.001), but not in those positive for the I148M variant (p=n.s.). 25980762

2015

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The presence of the minor PNPLA3 p.I148M risk allele increased the risk of developing NAFLD (OR = 3.29, P < 0.001) and was associated with higher steatosis, fibrosis, and serum CK18-M30 levels (all P < 0.05). 29483677

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The PNPLA3 rs738409 GG genotype is positively associated with HS, while the IFNL3 rs 12979860 CC genotype may be negatively associated with HS, in Asian CHC patients. 28797039

2017

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The PNPLA3 rs738409 GG donor genotype affects liver steatosis and steatohepatitis risk following living-donor LT. 28574625

2018

dbSNP: rs738409
rs738409
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

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 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 The PNPLA3 (rs738409 C>G) polymorphism favors steatosis and fibrosis progression in CHC. 21488075

2011

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 C > G single nucleotide polymorphism (SNP) has been associated with steatosis and fibrosis in previous NAFLD populations in which cirrhotic patients were very poorly represented. 27150500

2016

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The influence of recipient and donor TM6SF2 genotypes, PNPLA3 rs738409 genotypes and nongenetic factors on the steatosis grade assessed 6 - 30 months after transplantation was analyzed by ordinal logistic regression. 31356578

2020

dbSNP: rs738409
rs738409
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

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 genetic polymorphism I148M of the patatin-like phospholipase domain-containing 3 (PNPLA3) is associated with hepatic steatosis and its progression to steatohepatitis (NASH), fibrosis and cancer. 29116096

2017

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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The association of the PNPLA3 I148M protein variant (p.I148M) with steatosis, fibrosis stage, and cirrhosis was evaluated by logistic regression analysis. 22719190

2012