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 In this study, we report the association of the rs738407, rs738409, and rs2896019 variants of the patatin-like phospholipase domain-containing protein 3 (PNPLA3) (adiponutrin) gene with nonalcoholic steatohepatitis (NASH) (χ(2)=14.528, p=0.001; χ(2)=18.882, p=0.000; χ(2)=7.449, p=0.024, respectively) in 80 patients with NASH and 303 healthy controls. 24831885

2014

dbSNP: rs17007417
rs17007417
T 0.700 GeneticVariation GWASCAT Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers. 29385134

2018

dbSNP: rs2143571
rs2143571
A 0.700 GeneticVariation GWASCAT Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers. 29385134

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Pnpla3 silencing with antisense oligonucleotides ameliorates nonalcoholic steatohepatitis and fibrosis in Pnpla3 I148M knock-in mice. 30772256

2019

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Areas under the receiver operating characteristic curve (AUROCs) were calculated to predict hepatic steatosis (fatty liver index and hepatic steatosis index), nonalcoholic steatohepatitis (cytokeratin-18 M30 and M65), and significant fibrosis (≥F2 fibrosis) (fibrosis-4 and BARD), stratifying by rs738409 genotypes (CC and CG + GG groups). 31677195

2019

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The rs738409 and rs58542926 variants, but not rs641738, were associated not only with non-alcoholic steatohepatitis (NASH) (odds ratio [OR], 2.00; 95% confidence interval [CI], 1.46-2.73 and OR, 1.91; 95% CI, 1.04-3.51) but also with significant fibrosis (≥ F2) (OR, 1.53; 95% CI, 1.11-2.11 and OR, 1.88; 95% CI, 1.02-3.46) in NAFLD, even after adjustment for metabolic risk factors. 29193269

2018

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 A single nucleotide polymorphism (SNP) in the patatin-like phospholipase domain containing 3 gene (PNPLA3, rs738409) has been associated with fibrosis and development of hepatocellular carcinoma (HCC) in patients with nonalcoholic steatohepatitis, although its association with outcomes in patients with hepatitis C virus (HCV) infection is less clear. 26305067

2016

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The patatin-like phospholipase domain-containing protein 3 (PNPLA3) rs738409 variant is associated with histologic disease severity in patients with nonalcoholic fatty liver disease (NAFLD); however, whether the PNPLA3 genotype has an effect on susceptibility of nonalcoholic steatohepatitis (NASH) from NAFLD among severely obese patients remains unclear. 25240529

2016

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE We conducted a meta-analysis to assess the association between patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 polymorphism and nonalcoholic fatty liver disease (NAFLD) and its subtypes simple steatosis(SS) and nonalcoholic steatohepatitis (NASH). 25791171

2015

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE In this study, we report the association of the rs738407, rs738409, and rs2896019 variants of the patatin-like phospholipase domain-containing protein 3 (PNPLA3) (adiponutrin) gene with nonalcoholic steatohepatitis (NASH) (χ(2)=14.528, p=0.001; χ(2)=18.882, p=0.000; χ(2)=7.449, p=0.024, respectively) in 80 patients with NASH and 303 healthy controls. 24831885

2014

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The PNPLA3 rs738409 single-nucleotide polymorphism is known to promote nonalcoholic steatohepatitis (NASH), but its association with fibrosis severity and hepatocellular carcinoma (HCC) risk is less well-defined. 24445574

2014

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE In this study, we investigated the interactions of PNPLA3 rs738409 with a broad panel of metabolic and histologic characteristics of nonalcoholic fatty liver disease and nonalcoholic steatohepatitis (NASH) in patients with medically complicated obesity. 23418085

2013

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE In patients with NAFLD, adiponutrin rs738409 C-->G genotype, encoding for I148M, is associated with the severity of steatosis and fibrosis and the presence of nonalcoholic steatohepatitis. 20373368

2010

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE SNP rs738409 was genotyped by the Taqman assay in 253 patients with NAFLD (189 with nonalcoholic steatohepatitis [NASH] and 64 with simple steatosis) and 578 control subjects. 21176169

2010

dbSNP: rs1800562
rs1800562
0.030 GeneticVariation BEFREE HFE C282Y mutations are associated with advanced hepatic fibrosis in Caucasians with nonalcoholic steatohepatitis. 17680648

2007

dbSNP: rs1800562
rs1800562
0.030 GeneticVariation BEFREE Patient 1 had four children (all C282Y heterozygotes with no iron overload) and seven brothers and sisters: two sisters (66 and 76 years old) were C282Y homozygotes and both had an iron overload (a liver biopsy in one showed severe iron deposits), one sister (79 years old) was a compound heterozygote with no iron overload, one brother (78 years old) was a C282Y heterozygote with no iron overload, two individuals were H63D heterozygotes (one brother, 49 years old, obese, with a body iron overload and abnormal liver enzymes - a biopsy showed non-alcoholic steatohepatitis, and one 70-year-old sister with no iron overload). 15841433

2005

dbSNP: rs1800562
rs1800562
0.030 GeneticVariation BEFREE However, it is currently unresolved whether mild-to-moderate hepatic iron deposition or heterozygosity for the C282Y mutation plays a role in human alcoholic liver disease or in nonalcoholic fatty liver disease or nonalcoholic steatohepatitis. 12957298

2003

dbSNP: rs641738
rs641738
0.020 GeneticVariation BEFREE Recent studies have identified a genetic variant rs641738 near two genes encoding membrane bound <i>O</i>-acyltransferase domain-containing 7 (<i>MBOAT7</i>) and transmembrane channel-like 4 (<i>TMC4</i>) that associate with increased risk of non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), alcohol-related cirrhosis, and liver fibrosis in those infected with viral hepatitis (Buch et al., 2015; Mancina et al., 2016; Luukkonen et al., 2016; Thabet et al., 2016; Viitasalo et al., 2016; Krawczyk et al., 2017; Thabet et al., 2017). 31621579

2019

dbSNP: rs58542926
rs58542926
0.020 GeneticVariation BEFREE The rs738409 and rs58542926 variants, but not rs641738, were associated not only with non-alcoholic steatohepatitis (NASH) (odds ratio [OR], 2.00; 95% confidence interval [CI], 1.46-2.73 and OR, 1.91; 95% CI, 1.04-3.51) but also with significant fibrosis (≥ F2) (OR, 1.53; 95% CI, 1.11-2.11 and OR, 1.88; 95% CI, 1.02-3.46) in NAFLD, even after adjustment for metabolic risk factors. 29193269

2018

dbSNP: rs641738
rs641738
0.020 GeneticVariation BEFREE The rs738409 and rs58542926 variants, but not rs641738, were associated not only with non-alcoholic steatohepatitis (NASH) (odds ratio [OR], 2.00; 95% confidence interval [CI], 1.46-2.73 and OR, 1.91; 95% CI, 1.04-3.51) but also with significant fibrosis (≥ F2) (OR, 1.53; 95% CI, 1.11-2.11 and OR, 1.88; 95% CI, 1.02-3.46) in NAFLD, even after adjustment for metabolic risk factors. 29193269

2018

dbSNP: rs58542926
rs58542926
0.020 GeneticVariation BEFREE rs58542926 is a low-frequency variant with a modest effect on NAFLD, suggesting that carriers of the T allele are slightly more likely to accumulate fat in the liver and develop nonalcoholic steatohepatitis than those without. 25302781

2015

dbSNP: rs72613567
rs72613567
0.010 GeneticVariation BEFREE The rs72613567:TA variant was associated with a reduced risk of nonalcoholic steatohepatitis, but not steatosis, in human liver samples. 29562163

2018