rs738409, PNPLA3

N. diseases: 88
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
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
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation BEFREE In patients without, but not in those with NASH, significant fibrosis was associated with steatosis grade and the PNPLA3 I148M variant. 30708111 2019
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation BEFREE The risk of either NASH or F ≥ 2 fibrosis progressively increased with increasing PIIINP levels (P < .0001), independent of age, gender, adiposity measures, insulin resistance, NAS score and the patatin-like phospholipase domain-containing protein-3 rs738409 polymorphism. 31436362 2019
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation BEFREE The progression of NAFLD, including nonalcoholic steatohepatitis (NASH), has a strong genetic component, and the most robust contributor is the patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 encoding the 148M protein sequence variant. 30772256 2019
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
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
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 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
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation BEFREE Logistic regression was used to test associations [OR (95% CIs)] between low BMD, and both NASH and PNPLA3 I148M genotypes. 30176114 2018
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
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
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
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
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation BEFREE PNPLA3 rs738409 polymorphism is associated with fatty liver disease, alcoholic or non-alcoholic (NAFLD) and hepatocellular carcinoma (HCC). 26493626 2016
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation BEFREE The PNPLA3 rs738409 GG genotype increases susceptibility of NASH in severely obese Asians with NAFLD and correlates to histologic severity of NAFLD. 25240529 2016
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
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
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation BEFREE These findings suggest that the rs738409 polymorphism in PNPLA3 gene confers high cross-ethnicity risk for NAFLD and NASH development. 25791171 2015
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation BEFREE They had lower serum lipid levels than noncarriers (P < 0.05), had more-severe steatosis, necroinflammation, ballooning, and fibrosis (P < 0.05), and were more likely to have NASH (odds ratio [OR]: 1.84; 95% confidence interval [CI]: 1.23-2.79) and advanced fibrosis (OR, 2.08; 95% CI: 1.20-3.55), after adjustment for age, sex, body mass index, fasting hyperglycemia, and the I148M PNPLA3 risk variant. 25251399 2015
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
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
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 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
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation BEFREE Association studies confirm that the I148M polymorphism is also a strong modifier of NASH and progressive hepatic injury. 23394097 2013
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
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
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation GWASDB The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study. 23477746 2013
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation BEFREE PNPLA3 polymorphism rs738409 was associated with NASH and the severity of necroinflammatory changes independently of metabolic factors. 23512881 2013
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation BEFREE In this cohort of patients with medically complicated obesity, PNPLA3 rs738409 G allelic expression is associated with hepatic (NASH) and nonhepatic complications of obesity, such as insulin resistance. 23418085 2013
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation BEFREE Herein, we aimed to study the association between hepatic fat accumulation as assessed by magnetic resonance imaging and circulating levels of cytokeratin-18 (CK-18) fragments, a robust NASH biomarker, and to explore the impact on this association of ethnicity, insulin resistance, and single nucleotide polymorphisms (SNPs) associated with steatosis (rs738409 in the PNPLA3, rs1260326 in the GCKR) or NASH severity (rs2645424 in the FDFT1). 23275357 2013
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
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
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
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
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
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