Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease 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
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE The presence of the TM6SF2 c.499A allele in the donor (p=0.014), the PNPLA3 c.444G allele in the donor (p<0.001), posttransplant BMI (p<0.001) and serum triglycerides (p=0.047) independently predicted increased liver fat content on multivariable analysis whereas noncirrhotic liver disease as an indication for liver transplantation was associated with lower risk of steatosis (p=0.003). 31356578 2020
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE Studies have shown that two polymorphisms were associated with steatosis and progression of non-alcoholic fatty liver disease (NAFLD) in different populations: the Patatin-like Phospholipase Domain Containing 3 (PNPLA3) and Transmembrane 6 Superfamily Member 2 (TM6SF2). 31054980 2020
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE We assessed the familial correlation of PRO-C3 concentration, the shared gene effects between PRO-C3 concentration and liver steatosis and fibrosis, and the association between PRO-C3 concentration and genetic variants in the patatin-like phospholipase domain-containing 3 (PNPLA3), transmembrane 6 superfamily member 2 (TM6SF2), membrane-bound O-acyltransferase domain-containing (MBOAT), and glucokinase regulator (CGKR) genes. 30859582 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE PNPLA3 rs738409[G] allele was significantly correlated with severe steatosis (P = 0.04), severe fibrosis at the time of enrollment (P = 0.0005) and fibrosis progression with an OR of 10.31 (95% CI 1.06 - 99.59, P = 0.04), after a mean follow-up time of 62.85 (95%CI: 52.21 - 76.15) months. 31642820 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE In patients without, but not in those with NASH, significant fibrosis was associated with steatosis grade and the PNPLA3 I148M variant. 30708111 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 Biomarker disease BEFREE Overall, one-third of HIV/HCV-coinfected patients are affected by HS with PI-based ART and PNPLA3 impacting on HS prevalence. 31067123 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 Biomarker disease BEFREE Conclusion: Taken together, these findings are consistent with a model in which PNPLA3(148M) promotes steatosis by CGI-58-dependent inhibition of ATGL on LDs. 30802989 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 Biomarker disease BEFREE Based on a large monocentric cohort of Caucasian heavy drinkers we could recently provide evidence that PNPLA3 GG primarily correlated with signs of liver damage (steatohepatitis, ballooning) but less with steatosis. 30362098 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 Biomarker disease BEFREE Taken together, our results show that the steatosis associated with PNPLA3(148M) is caused by accumulation of PNPLA3 on LDs. 31019090 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease 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
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 Biomarker disease BEFREE ASO-mediated silencing of Pnpla3 reduced liver steatosis (p = 0.038) in homozygous Pnpla3 148M/M knock-in mutant mice but not in wild-type littermates fed a steatogenic high-sucrose diet. 30772256 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE Age-related skeletal muscle loss and patatin-like phospholipase domain-containing 3 (PNPLA3) polymorphisms are both associated with increased liver steatosis and fibrosis in the absence of obesity. 31250467 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE The PNPLA3 GG genotype interacted with changes in body weight to aggravate liver steatosis but reduced the risk of incident type 2 diabetes in metabolically unhealthy participants. 30673802 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 Biomarker disease BEFREE PNPLA3 was associated with a portal pattern of steatosis, inflammation and fibrosis. 30444569 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE Meta-analysis showed that PNPLA3 rs738409 polymorphism exerted strong influence not only on fatty liver but also on the histological injury. 30762732 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE The mechanism of how patatin-like phospholipase domain-containing protein 3 (PNPLA3) variant M148 is associated with increased risk of development of hepatic steatosis is still debated. 30171718 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE Establishment and characterization of an iPSC line from a 58 years old high grade patient with nonalcoholic fatty liver disease (70% steatosis) with homozygous wildtype PNPLA3 genotype. 30081348 2018
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE This meta-analysis pooled four studies with 1135 cases of chronic hepatitis B (CHB) to evaluate the impact of PNPLA3 SNP on liver steatosis and also pooled five studies with 3713 cases of CHB to evaluate the impact of PNPLA3 SNP on cirrhosis. 29218813 2018
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE Because PNPLA3 rs738409, GCKR rs780094 and TM6SF2 rs58542926 variants are known to confer susceptibility to NAFLD, we assessed the influence of MBOAT7 rs641738 on hepatic steatosis, and serum levels of CK-18 fragment (a biomarker of hepatocellular injury and apoptosis for NAFLD) after adjusting the effects of PNPLA3, GCKR and TM6SF2 polymorphisms. 29314568 2018
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease 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
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease 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
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease GWASCAT Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers. 29385134 2018
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 AlteredExpression disease BEFREE PNPLA3 expression in Hispanics could be decisive in NAFLD pathogenesis, it's highly prevalent and it's a key to condition and determine the spectrum associated, SS, NASH and fibrosis. 29055919 2018
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE The PNPLA3 rs738409 GG genotype, a steatosis risk factor, was identified in 13 recipients and 10 donors. 28574625 2018