|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
An isoleucine>methionine mutation at position 148 in the PNPLA3 gene (p.I148M, rs738409) has recently been identified as a susceptibility factor for liver damage in steatohepatitis.
|
22087248 |
2011 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Meta-analysis showed that PNPLA3 rs738409 polymorphism exerted strong influence not only on fatty liver but also on the histological injury.
|
30762732 |
2019 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
SNP rs738409 in PNPLA3 was significantly associated with liver density (P=0.0075) and hepatic steatosis (P=0.0350), but not with blood glucose, HbA(1c), total cholesterol, triglycerides, high-density or low-density lipoprotein levels or liver function tests (P=0.15-0.96).
|
21665509 |
2011 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Expression of PNPLA3(I148M), but not PNPLA3(WT), in liver recapitulated the fatty liver phenotype as well as other metabolic features associated with this allele in humans.
|
23023705 |
2012 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Moreover, we genotyped the same patients for the patatin-like phospholipase-containing domain 3 (PNPLA3) I148M polymorphism, which is implicated in the development of liver steatosis.
|
25250621 |
2014 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Reduction of Caloric Intake Might Override the Prosteatotic Effects of the PNPLA3 p.I148M and TM6SF2 p.E167K Variants in Patients with Fatty Liver: Ultrasound-Based Prospective Study.
|
26745555 |
2016 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Using a 443 patient training set, protein biomarker discovery was performed using the highly multiplexed SOMAscan<sup>®</sup> proteomic assay, a set of 19 clinical variables, and the steatosis predisposing PNPLA3 rs738409 single nucleotide polymorphism genotype status.
|
28266614 |
2017 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
No association between PNPLA3 rs738409/IL28B rs8099917 genotypes and hepatic steatosis or liver fibrosis was observed.
|
24349054 |
2013 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The PNPLA3 I148M variant is associated with the ultrasonography-determined steatosis degree in Chinese population.
|
23176674 |
2012 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
There is an established correlation between the PNPLA3 rs738409 C > G single nucleotide polymorphism (SNP) and hepatic steatosis and fibrosis in hepatitis C virus (HCV) infected patients.
|
31642820 |
2019 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Before 2008, candidate gene studies based on prior knowledge of pathophysiology of fatty liver yielded conflicting results.In 2008, Romeo et al. published the first genome wide association study and reported the strongest genetic signal for the presence of fatty liver (PNPLA3, patatin-like phospholipase domain containing 3; rs738409).
|
22093607 |
2012 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The genetic polymorphism with an isoleucine-to-methionine substitution at position 148 (rs738409 C>G) in the patatin-like phospholipase domain protein 3 (PNPLA3) gene confers risk of steatosis.
|
25964223 |
2015 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The PNPLA3 rs738409 polymorphism is associated with steatosis severity, hepatocellular ballooning, lobular inflammation, and perivenular fibrosis in pediatric NAFLD.
|
20648474 |
2010 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
In this large cohort of histologically proven NAFLD, we confirm the association of the rs738409 G allele with steatosis and describe its association with histological severity.
|
20684021 |
2010 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
We determined the frequency of PNPLA3 (rs738409), CSPG3/NCAN (rs2228603), GCKR (rs780094), PPP1R3B (rs4240624), TM6SF (rs8542926), LYPLAL1 (rs12137855) and MBOAT7 (rs626283) by RT-PCR in 117 HIV-positive patients on cART and stratified participants based on their "controlled attenuation parameter" (CAP) into probable (CAP: 215-300 dB/m) and definite (CAP >300 dB/m) hepatic steatosis.
|
28594920 |
2017 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A discrete trait analysis of NAFLD showed that rs58542926 was associated with a modest risk of fatty liver (P = 0.038; odds ratio [OR]: 1.37; 95% confidence interval [CI]: 1.02-1.84); nevertheless, conditioning on patatin-like phospholipase domain-containing 3 (PNPLA3)-rs738409 abolished this effect.
|
25302781 |
2015 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The rs738409 SNP in PNPLA3 is associated with an increased risk of steatosis in patients infected with HCV genotypes non-3.
|
21236304 |
2011 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Furthermore, the I148M variant represents a major determinant of progression of alcohol related steatohepatitis to cirrhosis, and to influence fibrogenesis and related clinical outcomes in chronic hepatitis C virus hepatitis, and possibly chronic hepatitis B virus hepatitis, hereditary hemochromatosis and primary sclerosing cholangitis.
|
24222941 |
2013 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Since DAG (FA18:1) has been implicated in hepatic insulin resistance, the unaltered proportion of DAG (FA18:1) in I148M PNPLA3 carriers with fatty liver may explain the normal insulin sensitivity in these subjects.
|
30227635 |
2018 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
However, PNPLA3 rs2294918 E434K decreased PNPLA3 expression, lessening the effect of the I148M variant on the predisposition to steatosis and liver damage.
|
26605757 |
2016 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
As PNPLA3 I148M is a strong and inherited determinant of liver fat without affecting insulin resistance and lipid levels, these data suggest that steatosis has a causal role in determining serum Fetuin-A levels.
|
24828988 |
2014 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
SNP rs738409 in the adiponutrin gene (PNPLA3) is a well described factor for steatosis.
|
23870067 |
2014 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Associations of the single nucleotide polymorphisms (SNP) PNPLA3 rs738409 and TM6SF2 rs58542926 with hepatic steatosis have recently been established.
|
26847197 |
2016 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
In multivariate regression analysis, recipients who carried rs738409-GG had a 13.7-fold higher risk of graft steatosis than recipients who carried rs738409-CC (P = .022), independent of recipient age, weight gain after liver transplantation, or the underlying disease.
|
23872669 |
2013 |
|
Steatohepatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
PNPLA3 rs738409 Polymorphism Predicts Development and Severity of Hepatic Steatosis but Not Metabolic Syndrome in Celiac Disease.
|
30189691 |
2018 |