|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
C282Y/C282Y genotype is the prevalent genotype in Hereditary Haemochromatosis (HH), however, other genotypes have been associated with the disease.
|
11840200 |
2001 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
C282Y and H63D mutations in the hemochromatosis (HFE) gene are associated with increased serum iron levels and consequently with hereditary hemochromatosis.
|
14618419 |
2003 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
C282Y and H63D mutations together with HLA genetic typing have been performed in Spanish hereditary hemochromatosis (n = 98) and PCT (n = 63) patients.
|
15740492 |
2005 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
C282Y and H63D are the main mutations related to hereditary hemochromatosis; these mutations have been reported to be associated with increased risk of developing diabetes mellitus type 2 (DM2).
|
19876870 |
2009 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A 60-year-old woman with secondary chronic cluster headache had increased serum ferritin and serum transferrin saturation and was homozygous for the C282Y mutation in the HFE gene, which is indicative of hereditary haemochromatosis.
|
12100096 |
2002 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote.
|
10348824 |
1999 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A patient with clinically manifest hereditary hemochromatosis was found to be heterozygous for the c.845 A-->G (C282Y) mutation.
|
11903354 |
2002 |
|
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 |
A systematic review of patients with HH over a 2-year period within a defined UK region has revealed that only 1.2% of adult C282Y homozygotes have been diagnosed with iron overload and received treatment.
|
12436244 |
2002 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A total of 139 subjects were diagnosed with HH (C282Y homozygotes = 87, C282Y/H63D = 26 heterozygotes, H63D homozygotes = 26), 27 healthy control subjects with no HFE mutation (N/N), 18 normal subjects heterozygous for the H63D mutation served as age-sex-matched controls.
|
20193033 |
2010 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
About 80% of individuals of European descent with HH are homozygous for a cysteine-to-tyrosine substitution (C282Y) in the gene now called HFE.
|
12208162 |
2002 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
About 85-90% of patients of northern European descent with HH are C282Y homozygous.
|
15841433 |
2005 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Affected individuals for Type 1 HH are usually either homozygous for a cysteine to tyrosine amino acid substitution at position 282 (C282Y) of the HFE gene, or compound heterozygotes for C282Y and for a histidine to aspartic acid change at position 63 (H63D).
|
17134494 |
2006 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
After the main hereditary hemochromatosis mutation C282Y in the HFE gene was described, we report here the C282Y frequencies for various European populations.
|
11500066 |
2001 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Aims of the study were: (i) to determine the prevalence of mutations C282Y and H63D in the HFE gene causing hereditary hemochromatosis in patients with type 2 diabetes mellitus and non-diabetics, (ii) to investigate the relationship among HFE genotypes, serum ferritin and glucose intolerance and (iii) to assess possible association of HFE mutations with the susceptibility to develop late diabetic complications in the Czech population.
|
12148086 |
2002 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
All adults previously diagnosed as homozygous or heterozygous for HLA-linked hereditary hemochromatosis carried at least one C282Y mutation.
|
9558290 |
1998 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
All participants (N=1784) were screened for mutations in exon 4, and a trend toward fewer heterozygotes for the C282Y mutation-the mutation most often associated with hereditary hemochromatosis-was found.
|
11700156 |
2001 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
All subjects with HH had C282Y homozygosity, and the normal volunteers lacked any HFE gene mutations known to cause HH.
|
22196777 |
2012 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Almost all patients with hereditary hemochromatosis show a C282Y mutation in homozygosity or in compound heterozygosity with H63D.
|
20714725 |
2011 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Although HH phenotype has been associated with all three mutations, C282Y is considered the most relevant mutation responsible for hemochromatosis.
|
19030706 |
2008 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Although most cases of hereditary haemochromatosis are associated with homozygosity for the C282Y mutation of the HFE gene, clinical penetrance varies and other genes may modify disease expression.
|
16174659 |
2006 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Among the patients, 20% had genotypes related to HH--7.4% were homozygous for C282Y, 6.3% were compound heterozygous for C282Y and H63D, 5.7% were homozygous for H63D, and 0.6% was compound heterozygous for C282Y and S65C.
|
21959608 |
2011 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
An accurate determination of the major HFE mutation (C282Y), which is associated with hereditary hemochromatosis, is important in diagnosis and risk assessment for this disease.
|
11017930 |
2000 |
|
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 |
An improved real time PCR method for simultaneous detection of C282Y and H63D mutations in the HFE gene associated with hereditary hemochromatosis.
|
11465544 |
2001 |