Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE Metabolic syndrome (MetS) and genetic polymorphisms PNPLA3 rs738409, TM6SF2 rs58542926 and MBOAT7 rs641738 are known inductors of non-alcoholic fatty liver disease (NAFLD). 31851849 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE The carriers of the PNPLA3 I148M variant also have a 3 times higher risk for the presence of metabolic syndrome (OR 2.939, 95% CI: 1.590-5.434, p=0.001) and a 2.1-fold higher risk for the presence of insulin resistance (OR 2.127, 95% CI: 1.078-4.194, p=0.029). 31826069 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE NAFLD associated with certain genetic factors such as the PNPLA3 G allele variant is not accompanied by insulin resistance and MS. Lifestyle modification, including diet and physical activity targeting visceral adiposity, remains the standard of care for patients with NAFLD and MS. 29128053 2018
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE The aim of the study was to evaluate the role of PNPLA3 rs738409 in the development of MS and HS in CD patients after starting GFD. 30189691 2018
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE Insulin resistance, the metabolic syndrome or type 2 diabetes and genetic variants of PNPLA3 or TM6SF2 seem to play a role in the pathogenesis of NAFLD. 28303724 2017
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 Biomarker disease BEFREE Aim of the study was to evaluate the role of hepatic copper content, PNPLA3 in NAFLD patients with and without metabolic syndrome (MetS). 27908400 2017
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE Such potential examples of genotypes that are associated with a dissociation between liver disease and metabolic syndrome are patatin-like phospholipase domain-containing protein-3 (PNPLA3) (I148M) and transmembrane 6 superfamily member 2 protein (TM6SF2) (E167K) genotypes. 26978356 2016
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE The I148M variant in PNPLA3 and the E167K variant in TM6SF2 are both associated with increased liver fat content, but not features of the metabolic/insulin resistance syndrome. 27432073 2016
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE First, we analyze the impact of demographic and ethnic characteristics of the PNPLA3 I148M variant and the presence of metabolic syndrome on the association between PNPLA3 I148M and NAFLD. 25624712 2015
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE The PNPLA3 rs738409 polymorphism is associated already in youths with increased ALT, and is more frequent in obese with MetS of all ages. 25939720 2015
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE Modern noninvasive liver graft assessment frequently detects hepatic steatosis, which is associated with graft fibrosis, components of the metabolic syndrome and recipient PNPLA3 rs738409 genotype, especially in ALC patients. 25429378 2015
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE Age and HOMA-IR were positive independent predictors of metabolic syndrome, while a negative independent association was found between metabolic syndrome and the homozygotes PNPLA3 I148M variant. 24947770 2014
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE The G allele in PNPLA3 rs738409 increases the risk of NAFLD in the general population, especially in subjects without metabolic syndrome, independent of dietary pattern and metabolic factors. 24417250 2014
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 Biomarker disease BEFREE Steatosis in PNPLA3-associated NAFLD is not accompanied by features of metabolic syndrome. 24731669 2014
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE Genetic variation at PNPLA3 confers a markedly increased risk of increasingly severe histological features of NAFLD, without a strong effect on metabolic syndrome component traits. 20648472 2010