|
rs1800562
|
|
|
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
|
|
|
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
|
|
|
0.100 |
GeneticVariation |
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 |
|
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 |
|
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 |
|
rs1800562
|
|
|
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
|
|
|
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 |
|
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 |
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
|
|
|
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 |
|
rs1800562
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.100 |
GeneticVariation |
BEFREE |
None of the 12 C282Y homozygotes had cardiac dysfunction or hepatic cirrhosis.
|
12482402 |
2003 |
|
rs1800562
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Heavy HIOL was noted in C282Y homozygotes and 1 patient with cirrhosis without either HFE mutation.
|
12109859 |
2002 |