Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9940128
rs9940128
FTO
0.010 GeneticVariation BEFREE The frequency of FL</span>D among rs9940128 AA carriers was 55.7% (63 of 113 individuals) and that in patients without this genotype was 39.7% (204 of 514 individuals) [P = 0.009; adjusted odds ratio 1.88; 95% confidence interval (CI) 1.17-3.01]. 28116842

2017

dbSNP: rs9939609
rs9939609
FTO
0.010 GeneticVariation BEFREE Three SNPs (rs8050136, rs9939609 and rs9940128) were associated with FLD, with rs9940128 showing the strongest association. 28116842

2017

dbSNP: rs951599607
rs951599607
0.010 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: rs926633
rs926633
0.700 GeneticVariation GWASDB The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study. 23477746

2013

dbSNP: rs903361
rs903361
0.010 GeneticVariation BEFREE <i>ADORA1</i> rs903361 associated with resolution of NASH (<i>p</i> = 0.0005) and change in the ballooning score among Caucasian and Hispanic patients (<i>p</i> = 0.0005). 30065651

2018

dbSNP: rs8192678
rs8192678
0.010 GeneticVariation BEFREE Further, there was an additive effect of the PPARGC1A rs8192678 GA/AA genotype and the PNPLA3 rs738409 GG genotype on the presence of NASH (OR 6.83; 95% CI 1.61-29.01; P = 0.009).The PPARGC1A rs8192678 GA/AA genotype and the PNPLA3 rs738409 GG genotype had an additive effect on NASH in severely obese Taiwanese patients. 27015186

2016

dbSNP: rs8050136
rs8050136
FTO
0.010 GeneticVariation BEFREE Three SNPs (rs8050136, rs9939609 and rs9940128) were associated with FLD, with rs9940128 showing the strongest association. 28116842

2017

dbSNP: rs7946
rs7946
0.020 GeneticVariation BEFREE Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. 17391797

2007

dbSNP: rs7946
rs7946
0.020 GeneticVariation BEFREE Decreased liver PC content in individuals with the NASH is independent of PEMT V175M genotype and could be partly linked to decreased GNMT expression. 31199045

2019

dbSNP: rs780094
rs780094
0.010 GeneticVariation BEFREE This study suggests that risk allele T of the GCKR rs780094 and rs1260326 is associated with predisposition to NAFLD and NASH with significant fibrosis. 23800943

2014

dbSNP: rs7643645
rs7643645
0.010 GeneticVariation BEFREE Finally, in univariate analysis rs7643645/G was significantly associated with fatty liver disease (P<0.04), with an odds ratio of 1.457 (95% confidence interval: 1.018-2.086). 19940802

2010

dbSNP: rs738491
rs738491
0.710 GeneticVariation GWASDB The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study. 23477746

2013

dbSNP: rs738491
rs738491
0.710 GeneticVariation BEFREE The rs12743824 and rs738491 SNPs were independently associated with FLD and steatohepatitis, respectively. 26352879

2015

dbSNP: rs738409
rs738409
0.800 GeneticVariation BEFREE Association studies confirm that the I148M polymorphism is also a strong modifier of NASH and progressive hepatic injury. 23394097

2013

dbSNP: rs738409
rs738409
0.800 GeneticVariation BEFREE Overall, the rs738409 G allele is associated with severity of NASH and occurrence of fibrosis in patients with NAFLD. 22258181

2012

dbSNP: rs738409
rs738409
0.800 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
0.800 GeneticVariation BEFREE Recently, genome-wide association studies led to the identification of the major inherited determinants of hepatic fat accumulation: patatin-like phospholipase domain-containing 3 (PNPLA3) I148M gene and transmembrane 6 superfamily member 2 (TM6SF2) E167K gene variants, involved in lipid droplets remodelling and very low-density lipoproteins secretion, are the major determinants of interindividual differences in liver steatosis, and susceptibility to progressive NASH. 26273621

2015

dbSNP: rs738409
rs738409
0.800 GeneticVariation BEFREE Reduced adiponectin is implicated in the pathogenesis of nonalcoholic fatty liver disease (NAFLD) and steatohepatitis (NASH), and the I148M Patatin-like phospholipase domain-containing 3 (PNPLA3) polymorphism predisposes to NAFLD and liver damage progression in NASH and chronic hepatitis C (CHC) by still undefined mechanisms, possibly involving regulation of adipose tissue function. 22898488

2012

dbSNP: rs738409
rs738409
0.800 GeneticVariation BEFREE To develop an animal model of PNPLA3-induced fatty liver disease, we generated transgenic mice that overexpress similar amounts of wild-type PNPLA3 (PNPLA3(WT)) or mutant PNPLA3 (PNPLA3(I148M)) either in liver or adipose tissue. 23023705

2012

dbSNP: rs738409
rs738409
0.800 GeneticVariation BEFREE Further, there was an additive effect of the PPARGC1A rs8192678 GA/AA genotype and the PNPLA3 rs738409 GG genotype on the presence of NASH (OR 6.83; 95% CI 1.61-29.01; P = 0.009).The PPARGC1A rs8192678 GA/AA genotype and the PNPLA3 rs738409 GG genotype had an additive effect on NASH in severely obese Taiwanese patients. 27015186

2016

dbSNP: rs738409
rs738409
0.800 GeneticVariation BEFREE Previously, we identified a variant (I148M) in patatin-like phospholipase domain-containing protein 3 (PNPLA3) that is strongly associated with FLD, but the mechanistic basis for the association remains elusive. 31019090

2019

dbSNP: rs738409
rs738409
0.800 GeneticVariation BEFREE A missense variant (I148M) in patatin-like phospholipase domain-containing protein 3 (PNPLA3) confers susceptibility to FLD, although the mechanism is not known. 29555681

2018

dbSNP: rs738409
rs738409
0.800 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
0.800 GeneticVariation BEFREE PNPLA3 rs738409 polymorphism is associated with fatty liver disease, alcoholic or non-alcoholic (NAFLD) and hepatocellular carcinoma (HCC). 26493626

2016

dbSNP: rs738409
rs738409
0.800 GeneticVariation BEFREE Several recent genome-wide association studies have reported an association between single-nucleotide polymorphism rs738409 in the (patatin-like phospholipase domain-containing protein 3) PNPLA3 gene and FLD. 22546774

2013