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 Increased liver disease mortality was associated with PNPLA3 I148M (hazard ratio (HR), 2.9; 95% confidence interval (CI), 0.9-9.8) and 148M genotypes (HR, 18.2; 95% CI, 3.5-93.8), an intermediate (HR, 3.8; 95% CI, 1.3-10.7) or high (HR, 12.6; 95% CI, 4.3-36.3) NAFLD liver fat score, and a high NAFLD fibrosis score (HR, 12.2; 95% CI, 1.9-80.6) adjusted for risk factors. 31705824 2020
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 Biomarker disease BEFREE We suggest PNPLA3 genotyping may help identify patients with NAFLD at higher risk of RTI. 31519069 2020
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE We investigated whether the common rs738409 variant in PNPLA3 gene associates with the occurrence of liver-related events and death in a large cohort of patients with NAFLD. 31419571 2020
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE This study aimed to elucidate whether PNPLA3 I148M is involved in NF-kB-related inflammation regulation in NAFLD. 31793207 2020
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE Notably, we also found that an additive effect of the TM6SF2 E167K and PNPLA3 I148M variants in NAFLD. 31054977 2020
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE PNPLA3 GG subjects had an increased risk (3.29-fold) of having NAFLD when compared to CC subjects (p=0.0044, 95% CI 1.504-7.225). 31054980 2020
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE Studies that used common variants in PNPLA3, TM6SF2 and GCKR as instruments to investigate the relationship between NAFLD and coronary artery disease (CAD) have reported contrasting results. 31713012 2020
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE In addition, genetic variants predisposing to NAFLD, such as the PNPLA3 I148M mutation, were not consistently associated with an increased risk of cardiovascular events. 30731283 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 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
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE Second, although the strongest genetic risk alleles for NAFLD (ie, the 148Met allele in PNPLA3 and the 167Lys allele in TM6SF2) are associated with increased liver fat content and progression to NASH and cirrhosis, these alleles are also unexpectedly associated with an apparent protection from cardiovascular disease. 30174213 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE Mendelian randomization using GWAS meta-analysis data was performed to estimate the causal effect of non-alcoholic fatty liver disease (PNPLA3, LYPLAL1, NCAN, GCKR) on eGFR (N<sub>max</sub> 118,460), microalbuminuria (N<sub>max</sub> 54,116), and impaired renal function (N<sub>max</sub> 118,147). 31668939 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE PNPLA3 rs738409 [G] allele was a risk factor for NAFLD (GG vs CC, OR = 4.01, 95% CI 2.93-5.49; GC vs CC, OR = 1.88, 95% CI 1.58-2.24). 30762732 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 Biomarker disease BEFREE The pathogenesis of non-alcoholic fatty liver disease (NAFLD) and hepatocellular carcinoma (HCC) has been associated with altered expression of liver-specific genes including pyruvate kinase liver and red blood cell (PKLR), patatin-like phospholipase domain containing 3 (PNPLA3) and proprotein convertase subtilisin/kexin type 9 (PCSK9). 30615941 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE The PNPLA3 loss-of-function variant p.I148M is a strong genetic determinant of nonalcoholic fatty liver disease. 31454802 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE The PNPLA3 I148M variant was significantly associated with the risk of NAFLD in an additive model (CG, OR = 2.092, 95% CI: 1.551-2.820, P = 0.000; GG, OR = 4.566, 95% CI: 3.141-6.638, P = 0.000, respectively). 30738435 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 Biomarker disease BEFREE We measured comprehensive lipoprotein profiles by nuclear magnetic resonance among 170 serially recruited patients in an NAFLD registry, and determined their relationships with PNPLA3 and TM6SF2 genotypes. 28362682 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 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
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE Three of the 14 SNPs were significantly associated with paediatric NAFLD after FDR adjustment, rs738409 (PNPLA3, P = 2.80 × 10<sup>-06</sup> ), rs1044498 (ENPP1, P = 0.0091) and rs780094 (GCKR, P = 0.0281). 30444569 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease GWASCAT GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network. 31311600 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE Among the eleven genotyped SNPs, the genetic variants in TM6SF2 rs58542926 (OR = 4.13, p = 0.002), GCKR rs1260326 (OR = 1.53, p = 0.003), PNPLA3 rs738409 (OR = 1.58, p = 0.004) and ELOVL2 rs2236212 (OR = 1.34, p = 0.047) were significantly associated with a higher risk of NAFLD. 31255630 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 Biomarker disease BEFREE CONCLUSION: Our study demonstrates the key role of hepatic Elovl6 in the regulation of the acyl-chain composition of ceramide, and that C18:0-ceramide is a potent regulator of hepatic insulin signaling linked to Pnpla3-mediated NAFLD. 31529722 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE A PNPLA3 variant showed association with lean NAFLD in the studied population. 30539516 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 PosttranslationalModification disease BEFREE The results revealed the potential mechanism underlying the effects of DAP on NAFLD in vitro: i) By increasing the phosphorylation of AMPK, DAP inhibited the expression of SREBP‑1C and PNPLA3, and induced that of PPARα. 30957185 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE An I148 M variant in patatin-like phospholipase domain-containing protein 3 (PNPLA3) and an E167K variant in transmembrane 6 superfamily 2 (TM6SF2) are major genetic risk factors for the development and progression of NAFLD. 30550414 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.500 GeneticVariation disease BEFREE Subgroup analyses found that PNPLA3 GG gene variant did not increase the risk for NAFLD in individuals with low ASM% regardless of obesity status. 31250467 2019