|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Diagnostic genetic testing for hereditary hemochromatosis is readily available for clinically relevant HFE variants (i.e., those that generate the C282Y, H63D and S65C HFE polymorphisms); however, genetic testing for other known causes of iron overload, including mutations affecting genes encoding hemojuvelin, transferrin receptor 2, HAMP, and ferroportin is not.
|
26142323 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
This new compound heterozygous phenotype is very close to those of the C282Y/H63D compound heterozygous patients who display the biochemical hemochromatosis phenotype but with lower body iron stores than C282Y homozygotes.
|
23953397 |
2014 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
These results indicate that the alterations in cholesterol metabolism associated with expression of H63D-HFE may contribute to the development of AD.
|
24439478 |
2014 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The H63D and C282Y mutations are well defined in the HH etiology.
|
24395214 |
2014 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
H63D mutation in hemochromatosis alters cholesterol metabolism and induces memory impairment.
|
24439478 |
2014 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
Factors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the strongest confirmed genetic predisposing factor for Alzheimer's disease), the hemochromatosis-HFE gene mutations (H63D and C282Y), diabetes, and stroke.
|
24081379 |
2014 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
To explore the modifying effects of the HFE genotype (wild-type, H63D variant and C282Y variant) on the Pb load and iron metabolism among Asian Pb-workers with high occupational exposure.
|
24988074 |
2014 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Factors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the strongest confirmed genetic predisposing factor for Alzheimer's disease), the hemochromatosis-HFE gene mutations (H63D and C282Y), diabetes, and stroke.
|
24081379 |
2014 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL.
|
25085015 |
2014 |
|
Hereditary hemochromatosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Iron overload is rare in patients homozygous for the H63D mutation.
|
24729993 |
2014 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
These results suggest that it may be useful to test for both HFE H63D and C282Y polymorphisms in patients with iron overload, as opposed to just genotyping for the C282Y SNP, which is customary in some healthcare centers.
|
23178241 |
2013 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
We analyzed data from the Hemochromatosis and Iron Overload Screening Study to assess the relationship among HFE genotype (individuals with either homozygous or compound heterozygous status for C282Y and/or H63D HFE mutations were defined as genotype positive, or G+), elevated iron phenotype (individuals exceeding gender-specific transferrin saturation and serum ferritin threshold levels were considered phenotype positive, or P+), and leukocyte telomere length, a marker of biological aging and cumulative oxidative stress.
|
23512844 |
2013 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
HFE C282Y homozygotes and compound heterozygotes (C282Y/H63D) are at risk of developing manifestations of hemochromatosis.
|
24054178 |
2013 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
Genotype analysis was performed for two functional polymorphisms (C282Y/rs1800562 and H63D/rs1799945) and seven tagSNPs of the HFE genomic region.
|
23389292 |
2013 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The synthesis of available evidence supports mutant of HFE H63D polymorphism plays a protective role for AD risk.
|
21701828 |
2012 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
In the Epistasis Project, with 1757 cases of AD and 6295 controls, we studied 4 variants in 2 genes of iron metabolism: hemochromatosis (HFE) C282Y and H63D, and transferrin (TF) C2 and -2G/A.
|
20817350 |
2012 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
Stratification analysis by HFE mutation type revealed that the H</span>63D mutation was associated with a significantly higher SVR rate (OR = 1.60, 95% CI: 1.09-2.34, P = 0.020), while the C282Y mutation was not (OR = 1.19, 95% CI: 0.71-1.98, P = 0.510).
|
22499121 |
2012 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Loss of central and peripheral CD8+ T-cell tolerance to HFE in mouse models of human familial hemochromatosis.
|
22531912 |
2012 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
The screening of Lithuanian blood donors has detected 13 (1.3%) subjects with a genotype C282Y/C282Y or C282Y/H63D responsible for the development of HFE-hemochromatosis.
|
21947086 |
2012 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
The synthesis of available evidence supports mutant of HFE H63D polymorphism plays a protective role for AD risk.
|
21701828 |
2012 |
|
Corpuscular Hemoglobin Concentration Mean
|
|
0.800 |
GeneticVariation
|
GWASDB |
Seventy-five genetic loci influencing the human red blood cell.
|
23222517 |
2012 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis.
|
22735619 |
2012 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
The prognostic role of hemochromatosis H63D allele in allogeneic hematopoietic stem cell transplantation.
|
22362121 |
2012 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
HFE gene mutations (C282Y and H63D) linked to hereditary hemochromatosis were analyzed by Fluorescence Resonance Energy Transfer (FRET) genotyping.
|
20974500 |
2012 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegenerative disorders such as amyotrophic lateral sclerosis and Alzheimer disease.
|
21349849 |
2011 |