|
rs137853590
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Employing the gene sequence, we have identified homozygous translation-terminating mutations, 277delC and Arg44ter, in the two published cases of liver Phk deficiency who developed cirrhosis in childhood.
|
9384616 |
1998 |
|
rs1800562
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Is there a threshold of hepatic iron concentration that leads to cirrhosis in C282Y hemochromatosis?
|
11232708 |
2001 |
|
rs1799945
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The possibility of cirrhosis-associated hemosiderosis secondary to an iron metabolism abnormality associated with the H63D mutation of the HFE gene is proposed.
|
11473464 |
2001 |
|
rs1799945
|
|
|
0.090 |
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
|
|
|
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 |
Forty-five per cent of the C282Y homozygotes detected already had cirrhosis.
|
11953685 |
2002 |
|
rs1800562
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Heavy HIOL was noted in C282Y homozygotes and 1 patient with cirrhosis without either HFE mutation.
|
12109859 |
2002 |
|
rs1799945
|
|
|
0.090 |
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 |
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 |
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 |
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 |
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 |
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 |
|
rs1799945
|
|
|
0.090 |
GeneticVariation |
BEFREE |
C282Y and H63D mutations do not appear to be associated with an increased risk of HCC in patients with cirrhosis.
|
12865278 |
2003 |
|
rs1799945
|
|
|
0.090 |
GeneticVariation |
BEFREE |
By multivariate logistic regression analysis the odds ratio for the development of advanced fibrosis or cirrhosis (F2-F4) was 2.5 for HCV-infected patients carrying a heterozygous C282Y mutation and 4.8 for HCV-infected patients with C282Y/H63D and C282Y/S65C compound heterozygosity.
|
14557859 |
2003 |
|
rs1799945
|
|
|
0.090 |
GeneticVariation |
BEFREE |
C282Y or H63D heterozygosity is an independent risk factor for liver fibrosis and cirrhosis in HCV infected individuals.
|
12586300 |
2003 |
|
rs1799945
|
|
|
0.090 |
GeneticVariation |
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 |
|
rs11554495
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of the 349 blood bank control samples, only one contained the Tyr-53 --> His and one the Gly-61 --> Cys K8 mutations (P < 0.004 when comparing cirrhosis versus control groups).
|
12724528 |
2003 |
|
rs1800730
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By multivariate logistic regression analysis the odds ratio for the development of advanced fibrosis or cirrhosis (F2-F4) was 2.5 for HCV-infected patients carrying a heterozygous C282Y mutation and 4.8 for HCV-infected patients with C282Y/H63D and C282Y/S65C compound heterozygosity.
|
14557859 |
2003 |