Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 Biomarker disease BEFREE Silibinin can ameliorate some metabolic alterations and induce some molecular changes by activating the CFLAR-JNK pathway and thereby regulating its downstream target genes involved in lipid metabolism (PPARα, SREBP-1C and PNPLA3), glucose uptake (PI3K-AKT), oxidative stress (NRF2, CYP2E1, CYP4A) and inflammatory response(NO) in OA-treated HepG2 cells demonstrating its possible use in ameliorating various symptoms of NASH. 30248539 2018
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 AlteredExpression disease BEFREE The p.148 M PNPLA3 variant was associated with decreased adiponectin mRNA levels in the VAT of obese patients (p < 0.05) even in the absence of NASH. 22898488 2012
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 GeneticVariation disease BEFREE PNPLA3-G/G-genotype seems to double the risks of hepatic decompensation and (liver-related) mortality in patients with portal hypertension due to fatty liver disease. 29956823 2018
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 Biomarker disease BEFREE Expression of a ubiquitylation-resistant form of PNPLA3 in mice caused accumulation of PNPLA3 on hepatic LDs and development of FLD. 31019090 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 GeneticVariation disease BEFREE The PNPLA3 rs738409 single-nucleotide polymorphism is known to promote nonalcoholic steatohepatitis (NASH), but its association with fibrosis severity and hepatocellular carcinoma (HCC) risk is less well-defined. 24445574 2014
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 GeneticVariation disease BEFREE The adiponutrin/PNPLA3 (patatin-like phospholipase domain-containing protein 3) variant I148M has recently emerged as an important marker of human fatty liver disease. 21145868 2011
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 GeneticVariation disease BEFREE A variant (148M) in patatin-like phospholipase domain-containing protein 3 (PNPLA3) is a major risk factor for fatty liver disease. 30802989 2019
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 GeneticVariation disease GWASDB The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study. 23477746 2013
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 GeneticVariation disease BEFREE Multivariate analysis indicated that PNPLA3 rs738409 G versus C allele remained an (independent) risk factor for NASH, in addition to CK-18 >145 IU/l, glucose >100 mg/dl, and C-reactive protein (CRP) >0.8 mg/dl. 23418085 2013
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 Biomarker disease BEFREE The Combination of Blueberry Juice and Probiotics Ameliorate Non-Alcoholic Steatohepatitis (NASH) by Affecting SREBP-1c/PNPLA-3 Pathway via PPAR-α. 28264426 2017
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 GeneticVariation disease BEFREE Several recent genome-wide association studies have reported an association between single-nucleotide polymorphism rs738409 in the (patatin-like phospholipase domain-containing protein 3) PNPLA3 gene and FLD. 22546774 2013
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 GeneticVariation disease BEFREE PNPLA3 genotypes partly affected the definition of NASH by the NAFLD activity score, but TM6SF2 genotypes did not affect the definition of NASH. 26610348 2016
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 Biomarker disease BEFREE Presence of minor allele (G) of PNPLA3 was also associated with moderate/severe steatosis (≥33%) both in patients with (OR: 2.405 [CI95%: 1.220-4.744], P=0.011) and without MetS (OR: 2.481 [CI95%: 1.172-5.250], P=0.018), but was only associated with NASH (OR: 2.002 [CI95%: 1.062-3.772], P=0.032) and liver fibrosis (OR: 2.646 [CI95%: 1.299-5.389], P=0.007) in patients without MetS. 27908400 2017
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 GeneticVariation disease BEFREE These data suggest an influence of the PNPLA3 polymorphism on the occurrence of HCC in patients with ASH/NASH but not among those with chronic viral hepatitis. 26745088 2015
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 GeneticVariation disease BEFREE The genetic polymorphism I148M of the patatin-like phospholipase domain-containing 3 (PNPLA3) is associated with hepatic steatosis and its progression to steatohepatitis (NASH), fibrosis and cancer. 29116096 2017
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 Biomarker disease BEFREE A common variant in the patatin-like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents. 20803499 2010
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 Biomarker disease BEFREE With these results we clearly demonstrated that Matteoni type4 NAFLD is both a genetically and clinically different subset from the other spectrums of the disease and that the PNPLA3 gene is strongly associated with the progression of NASH in Japanese population. 22719876 2012
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 GeneticVariation disease BEFREE Numerous studies in humans link a nonsynonymous genetic polymorphism (I148M) in adiponutrin (ADPN) to various forms of fatty liver disease and liver cirrhosis. 22560221 2012
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
0.200 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: 25813
Gene Symbol: SAMM50
SAMM50
0.110 GeneticVariation disease GWASDB The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study. 23477746 2013
Entrez Id: 25813
Gene Symbol: SAMM50
SAMM50
0.110 GeneticVariation disease BEFREE LPPR4 and SAMM50 allelic variants are independent risk factors for FLD and steatohepatitis development, respectively, in HIV-infected individuals. 26352879 2015
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.100 AlteredExpression disease BEFREE In the liver samples of patients with NAFLD, inflammasome components were significantly increased in those patients with nonalcoholic steatohepatitis (NASH) when compared to those with non-NASH NAFLD with mRNA levels of pro-IL1 beta correlated to levels of COL1A1. 24861026 2014
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
0.100 AlteredExpression disease BEFREE Meanwhile, BP increased the levels of SOD (superoxide dismutase), GSH (reduced glutathione) and HDL-C (high-density lipoprotein cholesterol), and reduced the levels of AST (aspartate aminotransferase), ALT (alanine aminotransferase), TG (triglycerides), LDL-C (low-density lipoprotein cholesterol) and MDA (malondialdehyde) in NASH models (<i>p</i> < 0.05). 28264426 2017
Entrez Id: 3077
Gene Symbol: HFE
HFE
0.100 GeneticVariation disease BEFREE We analyzed 54 liver biopsy specimens from 49 patients with a clinical diagnosis of NASH for immunoreactive UB and multiple features of necroinflammation, fibrosis, and Prussian blue-positive iron to determine whether the presence of immunoreactive UB increases detection of MH or correlates with other features of cell injury or mutations of the HFE gene.MH and UB were graded. 11338474 2000
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.100 GeneticVariation disease BEFREE Interleukin-1beta-511 T allele frequency and the T/T genotype frequency were significantly higher in NASH patients than those in control subjects. 15318095 2004