|
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 |
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 |
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 |
A small but significant number of Norwegian male C282Y homozygotes will contract liver cirrhosis if their hemochromatosis is not diagnosed and treated in time.
|
17710673 |
2007 |
|
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 |
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 |
Except for C282Y homozygotes, HFE gene mutations do not increase the risk to develop HCC in patients with cirrhosis.
|
12591066 |
2003 |
|
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 |
Forty-five per cent of the C282Y homozygotes detected already had cirrhosis.
|
11953685 |
2002 |
|
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 |
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 |
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 |
|
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 |
In this study we analyzed the livers of 50 transplant patients with a diagnosis of either hepatitis C cirrhosis or cryptogenic cirrhosis for the prevalence of the more common C282Y mutation of the HFE gene and correlated the findings to hepatic iron concentration.
|
11079015 |
2000 |
|
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 |
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 |
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 |
Mean lymphocyte numbers were lower in C282Y homozygous HHC index subjects with cirrhosis and higher iron stores than in those without cirrhosis and with lower iron burdens [(1.65 +/- 0.43) x 10(6)/mL vs. (2.27 +/- 0.49) x 10(6)/mL; p = 0.008].
|
11722599 |
2001 |
|
rs1800562
|
|
Liver Cirrhosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Molecular analysis of A1AT (S and Z) and HFE (C282Y and H63D) gene mutations in Egyptian cases with HCV liver cirrhosis.
|
16802007 |
2006 |
|
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 |
None of the 12 C282Y homozygotes had cardiac dysfunction or hepatic cirrhosis.
|
12482402 |
2003 |
|
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 |
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 |
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 |