Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE PNPLA3 rs738409" genes_norm="80339">I148M (rs738409) was genotyped by Taqman assay in 76 overweight/obese individuals [BMI (kg/m(2)) ≥25; mean ± SD age: 59.7 ± 11.4 y; male gender: 70%] with a histologic diagnosis of nonalcoholic fatty liver disease (NAFLD; namely the Milan NAFLD cohort) and in 413 obese men (BMI ≥30; mean ± SD age: 57.1 ± 4.9 y) from the α-Tocopherol, β-Carotene Cancer Prevention (ATBC) Study. 26136587 2015
CUI: C0028754
Disease: Obesity
Obesity
0.400 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: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE Two hundred and eighty-eight overweight/obese and 209 normal weight participants of the STYJOBS/EDECTA cohort (NCT00482924) were analysed for PNPLA3 genotypes. 25939720 2015
CUI: C0028754
Disease: Obesity
Obesity
0.400 AlteredExpression disease BEFREE PNPLA3 mRNA expression in the liver was positively related to obesity (r = 0.62, p < 0.0001) and to liver fat content (r = 0.58, p = 0.025) in participants who were not morbidly obese (BMI < 40 kg/m(2)). 19224197 2009
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE Non-alcoholic fatty liver disease (NAFLD) is commonly diagnosed in patients with obesity and type 2 diabetes mellitus (T2DM), and has been associated with the single nucleotide polymorphism (SNP) rs738409 in the PNPLA3 gene. 21665509 2011
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE Compared to recipients with only the PNPLA3 GG allele or obesity (defined as body mass index > 25 kg/m(2)), steatosis was highly prevalent (71.4%) in PNPLA3 GG carriers with obesity. 26379412 2015
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE In a sample of 230 overweight/obese children, 105 with NAFLD (hepatic fat fraction ≥5% by magnetic resonance imaging) and 125 without NAFLD, rs738409 in PNPLA3, rs58542926 in TM6SF2, rs1260326 in GCKR, and rs641738 in MBOAT7 were genotyped. 31505904 2019
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE A total of 372 subjects were divided into groups based on PNPLA3 genotype or obesity. 24009255 2014
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE In this study, we investigated the interactions of PNPLA3 rs738409 with a broad panel of metabolic and histologic characteristics of nonalcoholic fatty liver disease and nonalcoholic steatohepatitis (NASH) in patients with medically complicated obesity. 23418085 2013
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE Children with obesity and PNPLA3 MM genotype show lower eGFR levels compared with other genotypes, with a major effect of this polymorphism in the presence of NAFLD. 31184438 2019
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE A single nucleotide polymorphism (SNP) rs2072907 in the adiponutrin gene (ADPN) was not associated with obesity and type 2 diabetes in Chinese population. 19596471 2009
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE Here we show that adiposity significantly amplifies the effect of three sequence variants (encoding PNPLA3 p.I148M, TM6SF2 p.E167K, and GCKR p.P446L) associated with nonalcoholic fatty liver disease (NAFLD). 28436986 2017
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE The ORs of fibrosis were significant (P < .05) for patatin like phospholipase domain-containing 3-GG genotype (OR 2.1), parental obesity (OR 2.9), not being breastfed (OR 3.1), vitamin D status (<20 mg/dL) (OR 1.24), and fructose consumption (OR 1.6 per 1 g/day increase), whereas a high SES maternal occupation was inversely associated with fibrosis (OR 0.30). 31128886 2019
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE In multivariate analyses, fibrosis progression was associated with obesity (OR, 1.67; 95% CI, 1.11-2.51) and the PNPLA3 CG/GG genotype (OR, 1.70; 95% CI, 1.13-2.56). 26305067 2016
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE Three variants in PNPLA3 showed association with obesity before, but not after, adjustment for age and gender (rs139051, rs12483959, and rs2072907, p>0.05). 19390624 2009
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE This implies that NAFLD is heterogeneous and that "Obese/Metabolic NAFLD" but not NAFLD due to the PNPLA3 or TM6SF2 genetic variants predisposes to type 2 diabetes and cardiovascular disease. 27128911 2016
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE The I148M PNPLA3 variant is strongly associated with elevated ALT levels in normal weight and overweight/obese Mexican children. 23510779 2013
CUI: C0028754
Disease: Obesity
Obesity
0.400 Biomarker disease BEFREE The aim of the present study was to evaluate the association between PNPLA3, key gene of lipid metabolism and the metabolic traits in obesity NAFLD patients with and without prediabetes. 31826069 2019
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE There was no significant difference in the proportions of patients with rs738409 C>G in PNPLA3, but a significantly greater proportion of patients with lean NAFLD carried rs58542926 C>T in TM6SF2 (4%) than obese or overweight individuals with NAFLD (0.3%; P = .001). 28554682 2017
CUI: C0028754
Disease: Obesity
Obesity
0.400 Biomarker disease BEFREE PNPLA3 Expression Is Related to Liver Steatosis in Morbidly Obese Women with Non-Alcoholic Fatty Liver Disease. 27128907 2016
CUI: C0028754
Disease: Obesity
Obesity
0.400 Biomarker disease BEFREE Two hundred thirty Italian children with obesity were investigated for metabolic parameters and genotyped for PNPLA3, TM6SF2, GCKR, and MBOAT7 gene variants. 30710115 2019
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE Liver fat was measured by quantitative ultrasound in 4300 subjects in the Shanghai Changfeng community and analysed for its association with obesity and metabolic factors in individuals with the PNPLA3 CC, CG and GG genotypes. 26765961 2016
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE Stratifying the patients with the GPR120 270H variant on the basis of their PNPLA3 polymorphism, we demonstrated a significant interaction effect on ALT levels (P = 0.00001), suggesting a driving effect of the PNPLA3 148M allele on liver injury in children with obesity carrying this variant. 25250621 2014
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE In conclusion, PNPLA-3 non-CC genotype is associated with posttransplant obesity but not independently with diabetes/IFG. 23859071 2013
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE This study aimed to replicate the association between PNPLA3 variants and obesity, and to investigate their effect on insulin resistance and beta-cell function. 18728122 2008