Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2896019
rs2896019
G 0.710 GeneticVariation GWASCAT Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers. 29385134

2018

dbSNP: rs2896019
rs2896019
0.710 GeneticVariation BEFREE IL28B and PNPLA3 polymorphisms were associated with the presence of any steatosis (rs12979860, p = 1.87 × 10(-7); rs2896019, p = 7.56 × 10(-4)); clinically significant steatosis (rs12979860, p = 1.82 × 10(-3); rs2896019, p = 1.27 × 10(-4)); and steatosis severity (rs12979860, p = 2.05 × 10(-8); rs2896019, p = 2.62 × 10(-6)). 22543885

2012

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 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 Meta-analysis showed that PNPLA3 rs738409 polymorphism exerted strong influence not only on fatty liver but also on the histological injury. 30762732

2019

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 PNPLA3 rs738409 minor allele c.444G represents a risk factor for liver steatosis and fibrosis progression also in chronic hepatitis C (HCV). 31527889

2019

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Steatosis, ballooning, and lobular inflammation each were associated independently with significant fibrosis (P < .001); age, adiposity, fasting hyperglycemia, and the PNPLA3 I148M variant also were associated with fibrosis. 30708111

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 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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Although the PNPLA3 rs738409 G allele has been associated with the risk of steatosis in CHB patients, no association between this polymorphism and the risk of cirrhosis was seen. 29218813

2018

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE One year after LT, steatosis was present in 50.0% of homozygous recipients with the rs738409-G allele. 28718984

2018

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 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 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