Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
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
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
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
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
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
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
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
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
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
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
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
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
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
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
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
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
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
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE PNPLA3 was associated with a portal pattern of steatosis, inflammation and fibrosis. 30444569 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
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
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
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
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
0.500 GeneticVariation disease 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
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.500 GeneticVariation disease BEFREE The rs738409 c.444C > G (p.I148M) polymorphism in PNPLA3 is a major factor predisposing to non-alcoholic fatty liver disease. 29396131 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.500 GeneticVariation disease BEFREE Our study aimed to investigate the feasibility of a new index comprehensive index (CI), consisting of 6 serum biomarkers and anthropometric parameters through multivariate logistic regression analysis, to the earlier detection of NAFLD, and the diagnostic value of 5 SNPs (S1: rs2854116 of apolipoprotein C3 [APOC3], S2: rs4149267 of ATP-binding cassette transporter [ABCA1], S3: rs13702 of lipoprotein lipase [LPL], S4: rs738409 of protein 3 [patatin-like phospholipase domain containing protein 3 (PNPLA3)], S5: rs780094 of glucokinase regulatory protein gene [GCKR]) for NAFLD were also explored. 29595690 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.500 GeneticVariation disease BEFREE In addition, PNPLA3 rs738409 may be more relevant to the progression of non-obese NAFLD when compared to obese NAFLD. 29609501 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.500 GeneticVariation disease BEFREE An exploratory study was performed to determine the prevalence of the patatin-like phospholipase domain-containing protein 3 (PNPLA3) rs78409 [G] allele among the Hmong as a risk factor for nonalcoholic fatty liver disease (NAFLD). 29578593 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.500 GeneticVariation disease BEFREE As one of the genetic factors, PNPLA3 rs738409 (rs738409" genes_norm="80339">I148M) is important to associate with pathogenesis of NAFLD. 28497593 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
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
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.500 GeneticVariation disease BEFREE Here, we reprogrammed fibroblasts of a high grade NAFLD patient with homozygous wildtype PNPLA3 genotype. 30071394 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
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
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.500 GeneticVariation disease BEFREE PNPLA3 I148M polymorphism can significantly affect histologically proven NAFLD at 1 year post-LT. 28718984 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.500 GeneticVariation disease BEFREE Notably, the I148M PNPLA3 variant has been identified as the major common genetic determinant of NAFLD. 29122391 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.500 GeneticVariation disease BEFREE As variants in PNPLA3 (I148M) and TM6SF2 (E167K) are associated with nonalcoholic fatty liver disease, we assessed these variants in type 2 diabetes (T2D) patients randomized to receive BIL (n=1822) or GL (n=1270) in three phase 3 trials. 29160303 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.500 GeneticVariation disease BEFREE In conclusion, PNPLA3, and to a lesser extent, MBOAT7 variants are associated with NAFLD risk and modulate liver injury in non-obese patients without diabetes. 29483677 2018