|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Five patients had no HFE mutations; one of these patients unequivocally has iron overload with a hepatic iron index of 4.4 We conclude that: (1) Identification of HFE mutations will be clinically useful in identifying patients with hereditary hemochromatosis, (2) Patient genotyping will help confirm a diagnosis of hereditary hemochromatosis in some patients with relatively low body iron stores, (3) Significant iron loading can occur in the absence of homozygous C282Y, adding to the evidence that genes other than HFE may be involved in iron loading, and (4) Homozygous H63D can be associated with significant iron overload.
|
9410475 |
1997 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Five patients had no HFE mutations; one of these patients unequivocally has iron overload with a hepatic iron index of 4.4 We conclude that: (1) Identification of HFE mutations will be clinically useful in identifying patients with hereditary hemochromatosis, (2) Patient genotyping will help confirm a diagnosis of hereditary hemochromatosis in some patients with relatively low body iron stores, (3) Significant iron loading can occur in the absence of homozygous C282Y, adding to the evidence that genes other than HFE may be involved in iron loading, and (4) Homozygous H63D can be associated with significant iron overload.
|
9410475 |
1997 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
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 |
|
rs1800562
|
|
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 |
|
rs1800562
|
|
Hemochromatosis
|
|
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 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
The aim of this study was to investigate the role of the hemochromatosis mutation Cys282Tyr in development of the mild hepatic iron overload found in some patients with NASH and its association with hepatic damage in these patients.
|
9453491 |
1998 |
|
rs1800562
|
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The aim of this study was to investigate the role of the hemochromatosis mutation Cys282Tyr in development of the mild hepatic iron overload found in some patients with NASH and its association with hepatic damage in these patients.
|
9453491 |
1998 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Cys282Tyr mutation is responsible for most of the mild iron overload found in NASH and thus has a significant association with hepatic damage in these patients.
|
9453491 |
1998 |
|
rs1800562
|
|
Fatty Liver Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
The Cys282Tyr mutation is responsible for most of the mild iron overload found in NASH and thus has a significant association with hepatic damage in these patients.
|
9453491 |
1998 |
|
rs1800562
|
|
Steatohepatitis
|
|
0.030 |
GeneticVariation
|
BEFREE |
The presence of the Cys282Tyr mutation was tested in all patients, and the data were analyzed with respect to the histological grade of steatosis, inflammation, Perls' staining, hepatic iron concentration (HIC), and serum iron indices.
|
9453491 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
The aim of this study was to reassess the phenotypic diagnostic criteria for hemochromatosis in patients homozygous for the C282Y mutation of the HFE gene.
|
9453492 |
1998 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The identification of a candidate gene for hereditary hemochromatosis in 69%-100% of patients with hemochromatosis has resulted in a diagnostic genotypic test (C282Y).
|
9453492 |
1998 |
|
rs1800562
|
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The aim of this study was to reassess the phenotypic diagnostic criteria for hemochromatosis in patients homozygous for the C282Y mutation of the HFE gene.
|
9453492 |
1998 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
There were four homozygotes for C282Y with no biochemical evidence of iron overload.
|
9453492 |
1998 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Only one of 101 (1%) controls was homozygous for the C282Y mutation and this individual currently shows evidence of iron overload.
|
9462220 |
1997 |
|
rs1800562
|
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
To determine the prevalence of the haemochromatosis associated HFE mutations C282Y and H63D in United Kingdom affected and control populations.
|
9462220 |
1997 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis.
|
9497921 |
1997 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
An expected significant association between HH and HLA-A3 was observed, which was found to be in linkage disequilibrium with the C282Y mutation.
|
9510559 |
1998 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Two mutations (C282Y and H63D) in the novel major histocompatibility complex (MHC) class 1 gene HFE were found in most patients with hereditary hemochromatosis causing high iron stores.
|
9520858 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A.
|
9531249 |
1998 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Fifty-seven patients with GH, 73 family members and 153 healthy blood donors were studied for the amino acid dimorphism at codon 63 (His63Asp=H63D) and codon 282 (Cys282Tyr= C282Y) of the HFE gene.
|
9550327 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Additional factors may favor the development of a relatively mild hemochromatosis phenotype in patients nonhomozygous for the C282Y mutation.
|
9558289 |
1998 |
|
rs1800562
|
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Additional factors may favor the development of a relatively mild hemochromatosis phenotype in patients nonhomozygous for the C282Y mutation.
|
9558289 |
1998 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
C282Y homozygotes showed more severe iron overload than the other HFE genotypes.
|
9558289 |
1998 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
In Australia, 17.3% of subjects homozygous for the C282Y mutation do not express iron overload to meet current diagnostic criteria of hemochromatosis.
|
9558290 |
1998 |