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

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 Stepwise logistic regression analysis revealed that the strongest factor independently associated with steatosis was the carriage of the PNPLA3 rs738409 GG genotype (odds ratio [OR]/95% confidence intervals [CI]:2.34/1.557-3.515, P < 0.001). 26139292

2015

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE PNPLA3 rs738409 I748M is associated with steatohepatitis in 434 non-obese subjects with hepatitis C. 25801076

2015

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE However, IL28B rs12979860 and PNPLA3 rs738409 modify steatosis. 26259026

2016

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 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 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 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 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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The I148M variant has a strong impact on the full spectrum of liver damage related to fatty liver, encompassing non-alcoholic steatohepatitis, advanced fibrosis, and hepatocellular carcinoma, and influences the response to therapeutic approaches. 26409295

2016

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE PNPLA3 rs738409 (C>G) was associated with the risk of both advanced liver fibrosis and steatosis in patients with CHC, especially among Caucasian populations. 26419236

2016

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 However, its association with non-invasive ultrasound- and magnetic resonance (MR)-based markers of liver fibrosis and steatosis, the enhanced liver fibrosis (ELF) score, liver biopsy, as well as rs738409 in PNPLA3, has not been elucidated in NAFLD, so far. 28914407

2017

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE In children with NAFLD, the risk of severe steatosis is increased by SGA at birth, independent of and in addition to other powerful risk factors (insulin-resistance and I148M variant of the PNPLA3 gene). 28555633

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 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 Associations between the rs738409 polymorphism of the PNPLA3 gene genotype GG and hepatic steatosis and advanced fibrosis were observed. 29258449

2017

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 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

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 Donor PNPLA3 rs738409 genotype is a risk factor for graft steatosis. A post-transplant biopsy-based study. 29396131

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The p.I148M variant leads to macrovescicular steaosis and predisposes to liver disorders from steatohepatitis to fibrosis. 30308089

2018

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 PNPLA3 rs738409 Polymorphism Predicts Development and Severity of Hepatic Steatosis but Not Metabolic Syndrome in Celiac Disease. 30189691

2018