|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Furthermore, using two histologically characterized cohorts encompassing steatosis, steatohepatitis, fibrosis and cirrhosis (combined n=1,074), we demonstrate a new association, independent of potential confounding factors (age, BMI, type 2 diabetes mellitus and PNPLA3 rs738409 genotype), with advanced hepatic fibrosis/cirrhosis.
|
24978903 |
2014 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The association among age at onset of at-risk alcohol consumption, PNPLA3 I148M variant and cirrhosis incidence was tested.
|
24102786 |
2014 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.
|
25504078 |
2014 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Overall, these results suggest that rs738409 exerts a marked influence on hepatocarcinogenesis in patients with cirrhosis of European descent and provide a strong argument for performing further mechanistic studies to better understand the role of PNPLA3 in HCC development.
|
24114809 |
2014 |
|
rs12979860
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Cirrhosis and rapid virological response to peginterferon plus ribavirin determine treatment outcome in HCV-1 IL28B rs12979860 CC patients.
|
23936821 |
2013 |
|
rs1800562
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An elevated SF >1000 mg/l [corrected] is associated with an increased risk of cirrhosis and mortality in C282Y homozygotes.Conversely, a SF <1000 µg/l is associated with a very low likelihood of cirrhosis, making liver biopsy unnecessary among C282Y homozygotes in the absence of concomitant risk factors for liver disease.
|
23985001 |
2013 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
PNPLA3 rs738409 genotypes were assessed in 279 patients with alcoholic- and 253 patients with HCV-related cirrhosis.
|
23069476 |
2013 |
|
rs738409
|
|
|
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 |
|
rs1800562
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In hemochromatosis probands homozygous for HFE C282Y, serum levels of ferritin greater than 1000 μg/L at diagnosis were positively associated with male sex and cirrhosis.
|
22265917 |
2012 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter was associated with low platelet counts in patients with chronic hepatitis C. Polymorphism of patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene (rs738409 C>G) have been reported to be associated with cirrhosis, and the major genotype of SNPs near interleukin (IL)28B are related to viral clearance.
|
22863264 |
2012 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Previous studies of the PNPLA3 I148M sequence variant in HCV infected individuals have reported an association between this variant and prevalence of steatosis, fibrosis, and cirrhosis.
|
22978414 |
2012 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The association of the PNPLA3 I148M protein variant (p.I148M) with steatosis, fibrosis stage, and cirrhosis was evaluated by logistic regression analysis.
|
22719190 |
2012 |
|
rs12979860
|
|
|
0.100 |
GeneticVariation |
BEFREE |
IL-28B rs12979860 C/T polymorphism T allele is more prevalent in patients with viral cirrhosis due to HCV in comparison to other aetiologies and to patients with mild chronic hepatitis C. Among OLT patients, carriage of this allele seems to augment the risk of developing HCC.
|
21146242 |
2011 |
|
rs12979860
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, the rs12979860 C/T polymorphism in the IL28B gene has been linked to progression towards cirrhosis in HCV mono-infected patients and to treatment response of HCV-infection in HIV/HCV co-infected patients.
|
21813376 |
2011 |
|
rs12979860
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The IL28B rs12979860 CC genotype is associated with a higher prevalence of cirrhosis in HIV-HCV-coinfected patients than CT/TT genotypes, suggesting that IL28B CC carriers may experience a more rapid progression of HCV-related liver fibrosis, perhaps as result of increased liver inflammation.
|
21592993 |
2011 |
|
rs1800562
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, and -463G/A-myeloperoxidase genotypes (high activity for the Ala, Pro, and G alleles, respectively) on the risks of cirrhosis and hepatocellular carcinoma (HCC) in patients homozygous for the C282Y-hemochromatosis (HFE) gene mutation.
|
20673159 |
2011 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The population attributable risk of cirrhosis in alcoholic carriers of allele PNPLA3 rs738409(G) was estimated at 26.6%.
|
21254164 |
2011 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The PNPLA3 rs738409 C>G polymorphism is associated with cirrhosis.
|
21745286 |
2011 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of liver disease and hepatocellular carcinoma occurrence.
|
21745286 |
2011 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The rs738409 PNPLA3 genotype influences steatosis development in CHC and is independently associated with cirrhosis and other steatosis-related clinical outcomes, such as lack of response to antiviral treatment and possibly HCC.
|
21319195 |
2011 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In European Caucasians, the rs738409 variant is associated with increased risk of ALD, liver damage, and cirrhosis.
|
21334404 |
2011 |
|
rs1800562
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Patients with HH carrying the HFE gene who were homozygous for the Cys282Tyr mutation, serum ferritin levels of 300-2000 ng/mL, transferrin saturation ≥ 45%, and no known history of cirrhosis were enrolled in this dose-escalation study to characterize the safety and efficacy of deferasirox, comprising a core and an extension phase (each 24 weeks).
|
20814896 |
2010 |
|
rs1800562
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Most clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE gene, with serum ferritin (SF) concentration >1000 microg/L as the strongest predictor of cirrhosis.
|
20583211 |
2010 |
|
rs1800562
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Liver iron overload and C282Y mutation are associated with a higher risk of HCC in patients with alcoholic but not HCV-related cirrhosis.
|
18061182 |
2008 |
|
rs1800562
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Among Caucasians, C282Y heterozygotes were more likely to have bridging fibrosis or cirrhosis (44% versus 21% [P = 0.05]) and stainable hepatic iron (50% versus 16% [P = 0.011]) compared with patients with other genotypes.
|
17680648 |
2007 |