|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
HFE mutations (C282Y and H63D) were assessed in 162 consecutive patients (131 men/31 women) with HCC.A total of 159 patients had cirrhosis.
|
12591066 |
2003 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Additionally, patients with cirrhosis did not have frequencies of HFE mutations different from those without cirrhosis.
|
22297603 |
2012 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
After adjustment for duration of infection with hepatitis C virus, HFE mutations were also independently associated with the presence of bridging fibrosis or cirrhosis (odds ratio, 18; 95% confidence interval, 1.7-193).
|
12557137 |
2003 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Association between rs236918 and cirrhosis was confirmed in Austrian/Swiss HFE C282Y homozygotes (P = 0.014; ORallelic = 1.82 (95% CI 1.12-2.95) but not in Swedish patients.
|
24556216 |
2014 |
|
Liver Cirrhosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Considering all HFE heterozygous HCV patients, odds ratios of 3.6 (CI 1.4-9.3; P<0.009) for cirrhosis and 3.1 (CI 1.3-7.3; P<0.009) for fibrosis were calculated.
|
12586300 |
2003 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Considering all HFE heterozygous HCV patients, odds ratios of 3.6 (CI 1.4-9.3; P<0.009) for cirrhosis and 3.1 (CI 1.3-7.3; P<0.009) for fibrosis were calculated.
|
12586300 |
2003 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fibrosis stage can decrease following treatment in patients with hemochromatosis caused by mutations in the homeostatic iron regulator gene (HFE), but the effects on cirrhosis are not clear.
|
31622736 |
2019 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Finally, these findings support a larger scale screening for HERPUD1 R50H and HFE H63D variants in the sub-group of 1ATD patients developing significant chronic hepatic injuries (hepatomegaly, chronic cholestasis, elevated liver enzymes) and at risk developing liver cirrhosis.
|
28617828 |
2017 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heavy HIOL was noted in C282Y homozygotes and 1 patient with cirrhosis without either HFE mutation.
|
12109859 |
2002 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Liver Cirrhosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
In conclusion, the combination of HFE-haemochromatosis and occult HBV infection in this patient might have led to a sequel of cellular events that determined the development of HCC even in the absence of cirrhosis.
|
22989571 |
2013 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
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 cirrhosis (F2-F4).
|
14557859 |
2003 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Liver Cirrhosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the second study (2002), 206 subjects with classical HFE-associated hemochromatosis in whom liver biopsy had been performed were evaluated to quantify the contribution of excess alcohol consumption to the development of cirrhosis in hemochromatosis.
|
12957297 |
2003 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Iron overload in cirrhosis-HFE genotypes and outcome after liver transplantation.
|
10655270 |
2000 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Molecular analysis of A1AT (S and Z) and HFE (C282Y and H63D) gene mutations in Egyptian cases with HCV liver cirrhosis.
|
16802007 |
2006 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Overall, these data suggest that the liver iron accumulation in patients with CAH C is significantly associated with histological activity and cirrhosis, whereas the two missense hemochromatosis gene mutations are not major determinants.
|
10604569 |
1999 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recent studies suggest that the risk for HCC in HFE -associated HH may be much lower and occurs predominantly in patients with cirrhosis at the time of diagnosis.
|
15508107 |
2004 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis probands with HFE C282Y homozygosity: age; sex; BMI; diabetes reports in first-degree family members (dichotomous); heavy ethanol consumption; cigarette smoking; elevated serum alanine aminotransferase/aspartate aminotransferase levels; nonalcoholic fatty liver; chronic viral hepatitis; cirrhosis; hand arthropathy; iron removed by phlebotomy; and positivity for HLA-A*01, B*08; A*03, B*07; and A*03, B*14 haplotypes.
|
23990522 |
2014 |
|
Liver Cirrhosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Serum markers of iron status and HFE mutations were determined in 179 patients with alcoholic cirrhosis and 98 patients with hepatitis B and/or hepatitis C virus-related cirrhosis.
|
12003382 |
2002 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Severe fibrosis and cirrhosis were associated more markedly with the presence of hemosiderin iron in the 3 hepatic compartments, HFE mutations, and high alcohol intake.
|
16416733 |
2005 |