|
rs58542926
|
|
|
0.020 |
GeneticVariation |
BEFREE |
rs58542926 is a low-frequency variant with a modest effect on NAFLD, suggesting that carriers of the T allele are slightly more likely to accumulate fat in the liver and develop nonalcoholic steatohepatitis than those without.
|
25302781 |
2015 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A single nucleotide polymorphism (SNP) in the patatin-like phospholipase domain containing 3 gene (PNPLA3, rs738409) has been associated with fibrosis and development of hepatocellular carcinoma (HCC) in patients with nonalcoholic steatohepatitis, although its association with outcomes in patients with hepatitis C virus (HCV) infection is less clear.
|
26305067 |
2016 |
|
rs13412852
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Affected children carrying the rs13412852 TT genotype had a trend for a lower prevalence of nonalcoholic steatohepatitis, and significantly less severe liver damage, as indicated by NAFLD activity score severity (P = 0.026) and a lower prevalence of liver fibrosis (P = 0.012).
|
22157924 |
2012 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Areas under the receiver operating characteristic curve (AUROCs) were calculated to predict hepatic steatosis (fatty liver index and hepatic steatosis index), nonalcoholic steatohepatitis (cytokeratin-18 M30 and M65), and significant fibrosis (≥F2 fibrosis) (fibrosis-4 and BARD), stratifying by rs738409 genotypes (CC and CG + GG groups).
|
31677195 |
2019 |
|
rs694539
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of nicotinamide-N-methyltransferase gene rs694539 variant with patients with nonalcoholic steatohepatitis.
|
23964925 |
2013 |
|
rs1800562
|
|
|
0.030 |
GeneticVariation |
BEFREE |
HFE C282Y mutations are associated with advanced hepatic fibrosis in Caucasians with nonalcoholic steatohepatitis.
|
17680648 |
2007 |
|
rs1800562
|
|
|
0.030 |
GeneticVariation |
BEFREE |
However, it is currently unresolved whether mild-to-moderate hepatic iron deposition or heterozygosity for the C282Y mutation plays a role in human alcoholic liver disease or in nonalcoholic fatty liver disease or nonalcoholic steatohepatitis.
|
12957298 |
2003 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In patients with NAFLD, adiponutrin rs738409 C-->G genotype, encoding for I148M, is associated with the severity of steatosis and fibrosis and the presence of nonalcoholic steatohepatitis.
|
20373368 |
2010 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs738407
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we report the association of the rs738407, rs738409, and rs2896019 variants of the patatin-like phospholipase domain-containing protein 3 (PNPLA3) (adiponutrin) gene with nonalcoholic steatohepatitis (NASH) (χ(2)=14.528, p=0.001; χ(2)=18.882, p=0.000; χ(2)=7.449, p=0.024, respectively) in 80 patients with NASH and 303 healthy controls.
|
24831885 |
2014 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In this study, we report the association of the rs738407, rs738409, and rs2896019 variants of the patatin-like phospholipase domain-containing protein 3 (PNPLA3) (adiponutrin) gene with nonalcoholic steatohepatitis (NASH) (χ(2)=14.528, p=0.001; χ(2)=18.882, p=0.000; χ(2)=7.449, p=0.024, respectively) in 80 patients with NASH and 303 healthy controls.
|
24831885 |
2014 |
|
rs2896019
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In this study, we report the association of the rs738407, rs738409, and rs2896019 variants of the patatin-like phospholipase domain-containing protein 3 (PNPLA3) (adiponutrin) gene with nonalcoholic steatohepatitis (NASH) (χ(2)=14.528, p=0.001; χ(2)=18.882, p=0.000; χ(2)=7.449, p=0.024, respectively) in 80 patients with NASH and 303 healthy controls.
|
24831885 |
2014 |
|
rs1800562
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Patient 1 had four children (all C282Y heterozygotes with no iron overload) and seven brothers and sisters: two sisters (66 and 76 years old) were C282Y homozygotes and both had an iron overload (a liver biopsy in one showed severe iron deposits), one sister (79 years old) was a compound heterozygote with no iron overload, one brother (78 years old) was a C282Y heterozygote with no iron overload, two individuals were H63D heterozygotes (one brother, 49 years old, obese, with a body iron overload and abnormal liver enzymes - a biopsy showed non-alcoholic steatohepatitis, and one 70-year-old sister with no iron overload).
|
15841433 |
2005 |
|
rs1800206
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Peroxisome proliferator-activated receptor alpha L162V polymorphism in nonalcoholic steatohepatitis and genotype 1 hepatitis C virus-related liver steatosis.
|
16297361 |
2005 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Pnpla3 silencing with antisense oligonucleotides ameliorates nonalcoholic steatohepatitis and fibrosis in Pnpla3 I148M knock-in mice.
|
30772256 |
2019 |
|
rs641738
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Recent studies have identified a genetic variant rs641738 near two genes encoding membrane bound <i>O</i>-acyltransferase domain-containing 7 (<i>MBOAT7</i>) and transmembrane channel-like 4 (<i>TMC4</i>) that associate with increased risk of non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), alcohol-related cirrhosis, and liver fibrosis in those infected with viral hepatitis (Buch et al., 2015; Mancina et al., 2016; Luukkonen et al., 2016; Thabet et al., 2016; Viitasalo et al., 2016; Krawczyk et al., 2017; Thabet et al., 2017).
|
31621579 |
2019 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, the common variant p.I148M of the enzyme adiponutrin (PNPLA3) has emerged as a major genetic determinant of hepatic steatosis and nonalcoholic steatohepatitis as well as its pathobiological sequelae fibrosis, cirrhosis, and hepatocellular cancer.
|
24222094 |
2013 |
|
rs2896019
|
|
G |
0.710 |
GeneticVariation |
GWASCAT |
Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.
|
29385134 |
2018 |
|
rs17007417
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.
|
29385134 |
2018 |
|
rs2143571
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.
|
29385134 |
2018 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
SNP rs738409 was genotyped by the Taqman assay in 253 patients with NAFLD (189 with nonalcoholic steatohepatitis [NASH] and 64 with simple steatosis) and 578 control subjects.
|
21176169 |
2010 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The I148M variant has a strong impact on the full spectrum of liver damage related to fatty liver, encompassing non-alcoholic steatohepatitis, advanced fibrosis, and hepatocellular carcinoma, and influences the response to therapeutic approaches.
|
26409295 |
2016 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The rs738409 and rs58542926 variants, but not rs641738, were associated not only with non-alcoholic steatohepatitis (NASH) (odds ratio [OR], 2.00; 95% confidence interval [CI], 1.46-2.73 and OR, 1.91; 95% CI, 1.04-3.51) but also with significant fibrosis (≥ F2) (OR, 1.53; 95% CI, 1.11-2.11 and OR, 1.88; 95% CI, 1.02-3.46) in NAFLD, even after adjustment for metabolic risk factors.
|
29193269 |
2018 |
|
rs72613567
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs72613567:TA variant was associated with a reduced risk of nonalcoholic steatohepatitis, but not steatosis, in human liver samples.
|
29562163 |
2018 |
|
rs1260326
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The GCKR rs1260326 and rs780094 allele T were associated with susceptibility to NAFLD (OR 1.49, 95 % CI 1.09-2.05, p = 0.012; and OR 1.51, 95 % CI 1.09-2.09, p = 0.013, respectively), non-alcoholic steatohepatitis (NASH) (OR 1.55, 95 % CI 1.10-2.17, p = 0.013; and OR 1.56, 95 % CI 1.10-2.20, p = 0.012, respectively) and NASH with significant fibrosis (OR 1.50, 95 % CI 1.01-2.21, p = 0.044; and OR 1.52, 95 % CI 1.03-2.26, p = 0.038, respectively).
|
23800943 |
2014 |