|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mutation.
|
24556216 |
2014 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
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
|
|
Liver Cirrhosis
|
|
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 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
C282Y or H63D heterozygosity is an independent risk factor for liver fibrosis and cirrhosis in HCV infected individuals.
|
12586300 |
2003 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The aims of this study were to define the prevalence of the mutations 845G --> A and 187C --> G (C282Y and H63D) in the HFE gene associated with hereditary hemochromatosis in Italian patients with hepatocellular carcinoma occurring in cirrhosis and to analyze the interaction between these mutations and other established risk factors for hepatocellular carcinoma.
|
11500061 |
2001 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
C282Y and H63D mutations do not appear to be associated with an increased risk of HCC in patients with cirrhosis.
|
12865278 |
2003 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Other recent evidence indicates that the prevalence of HFE gene mutations is increased in chronic viral hepatitis and that patients with chronic hepatitis C harboring especially the C282Y mutation are more likely to suffer from advanced hepatic fibrosis or cirrhosis and to do so at younger ages.
|
12957298 |
2003 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
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 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Only the homozygous C282Y mutation seems to occur more frequently in the selected population of patients with liver cirrhosis.
|
21669570 |
2011 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Is there a threshold of hepatic iron concentration that leads to cirrhosis in C282Y hemochromatosis?
|
11232708 |
2001 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Only a minority of our patients with hemochromatosis had a far advanced disease at the time of diagnosis (less than 5% had cirrhosis) and hemochromatosis in a majority of the C282Y mutation negative patients was associated with excessive oral iron intake for several years.
|
11199371 |
2000 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
None of the 12 C282Y homozygotes had cardiac dysfunction or hepatic cirrhosis.
|
12482402 |
2003 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The aim of this study was to investigate the association between HFE gene mutations (C282Y, H63D) and hepatocellular carcinoma in patients with alcoholic and virus-related cirrhosis.
|
12003382 |
2002 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C282Y and the H63D mutation of the HFE gene were analyzed in 137 patients with HCC and no history of HH, 107 patients with cirrhosis without HCC and 126 healthy controls.
|
15017669 |
2003 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Heavy HIOL was noted in C282Y homozygotes and 1 patient with cirrhosis without either HFE mutation.
|
12109859 |
2002 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A diagnosis of liver cancer or cirrhosis is rare in the lifetime of individuals from this population who are homozygous for the C282Y mutation (2.5%; upper 95% confidence interval (CI) = 8%).
|
10673304 |
2000 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
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
|
|
Liver Cirrhosis
|
|
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
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
For C282Y heterozygous patients, the odds ratios for marked inflammatory activity (A2-4) and advanced liver fibrosis or cirrhosis (F2-4) are 4.9 and 4.6, respectively, compared with patients carrying homozygous wild-type alleles.
|
15287851 |
2004 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Liver biopsy is recommended when ferritin exceeds 1000 microg/l to establish the presence or absence of cirrhosis, which will affect prognosis and management. iron accumulation confirmed by magnetic resonance imaging (MRI) in the absence of the homozygous C282Y mutation or the combined C282Y/H63d genotype may justify a search for rare hereditary forms of non-HFE HH in a specialised centre.
|
18079569 |
2007 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
In HCV-infected patients, heterozygosity for the C282Y mutation in HFE was significantly associated with elevated serum ferritin levels, stainable liver iron, and advanced fibrosis or c</span>irrhosis (F2-F4).
|
14557859 |
2003 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
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 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an iron overload disorder that can result in severe morbidity including hepatic cirrhosis.
|
19930418 |
2010 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The results indicate that HH patients with the HFE C282Y mutation and low numbers of CD8+ cells in the liver lobuli have higher iron stores and are more prone to develop liver cirrhosis.
|
11168438 |
2001 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, cirrhosis in HFE p.C282Y homozygotes is significantly associated with age, diabetes, daily alcohol intake, and iron removed by phlebotomy, taking into account the effect of other variables.
|
30145563 |
2018 |