|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
Allele frequency for HFE mutations, i.e., C282Y (p = 0.0001) and H63D (p = 0.0004), were significantly higher in porphyria cutanea tarda patients, compared to control group.
|
24068123 |
2014 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
Both C282Y and H63D were more frequent in PCT+ patients than in controls, but there was no difference in HFE genotype according to HCV seropositivity.
|
19001803 |
2009 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
To determine if mutations in or expression of these genes influenced iron overload in PCT, we compared sequences of HAMP and HJV in 96 patients with PCT and 88 HFE C282Y homozygotes with marked hepatic iron overload.
|
18809758 |
2008 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
To determine the prevalence of the HFE gene mutations p.Cys282Tyr (C282Y), p.His63Asp (H63D) and p.Ser65Cys (S65C), the p.Tyr250X (Y250X) mutation of the TFR2 gene, and HCV infection in patients with PCT in the Czech population, and to make comparison of the iron status among the respective genotypes.
|
18565178 |
2008 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis: a case report and review of the literature.
|
18189029 |
2007 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C282Y mutation has a relevant role in Spanish patients with PCT not associated with HCV chronic infection.
|
17062032 |
2006 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our results comprise the first molecular studies of both common and rare hemochromatosis gene variants in German PCT patients, indicating a significant role of the C282Y mutation in the pathogenesis of PCT.
|
17298224 |
2006 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
HCV infection and HFE C282Y mutation may probably be independent predisposing factors for development of PCT in Hungarian patients.
|
15101996 |
2004 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
Because HFE C282Y homozygotes (+/+) did not respond to chloroquine and a decrease in serum iron concentration was limited to patients with PCT and HFE wild type, phlebotomy should be first-line therapy in patients with PCT and HFE mutations.
|
12622622 |
2003 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
A statistically significant increase in the C282Y mutation was found in PCT patients.
|
12673077 |
2003 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recent reports have described a significant association between inheritance of the C282Y and H63D mutations in the HFE gene, associated with genetic hemochromatosis (GH) and PCT.
|
12699243 |
2002 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
The high frequency of homo- and heterozygosity for the C282Y and H63D alleles strongly suggests that these mutations are important predisposing factors for PCT in German patients.
|
11499833 |
2001 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
Analysis of the frequencies of hemochromatosis genotypes in each type of porphyria cutanea tarda indicated that C282Y homozygosity is an important susceptibility factor in both types but suggested that heterozygosity for this mutation has much less effect on the development of the disease.
|
11069625 |
2000 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
Homozygosity for the Cys282Tyr mutation and HCV are the greatest risk factors for expression of PCT, and in most patients, more than 1 risk factor was identified.
|
10688809 |
2000 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
These data further support the notion that both acquired and inherited factors contribute to the occurrence of PCT, and indicate that screening for C282Y may be justified in PCT patients.
|
11151887 |
2000 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
Proband 3 was also heterozygous for C282Y and had porphyria cutanea tarda, and Proband 4 had hereditary stomatocytosis.
|
10575540 |
1999 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our data do not confirm an association of PCT with the Cys282Tyr HFE mutation, strongly associated with hemochromatosis in Northern European countries.
|
9425935 |
1998 |
|
Porphyria Cutanea Tarda
|
|
0.100 |
GeneticVariation
|
BEFREE |
Inherited factors that, in combination, may predispose to PCT include mutations in the UROD gene, present in about 20% of patients, and the C282Y mutation in the haemochromatosis (HFE) gene.
|
9638727 |
1998 |