|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
The H63D HFE substitution also impacted on disease phenotype, but to a lesser extent.
|
30291871 |
2019 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
The examined genes and single-nucleotide polymorphisms were 1) TMPRSS6, involved in regulation of hepcidin: rs855791; 2) HFE, associated with hemochromatosis: rs1800562 and rs1799945; 3) BTBD9, associated with restless leg syndrome: rs9357271; and 4) TF, encoding transferrin: rs2280673 and rs1830084.
|
30536387 |
2019 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
We genotyped HFE p.C282Y (rs1800562) and p.H63D (rs1799945) variants in patients with primary varicose veins (n = 463) and in the control group (n = 754).
|
26416403 |
2016 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
The risk of hemochromatosis-related morbidity for HFE simple heterozygosity for either the C282Y or H63D substitutions in the HFE protein was assessed using a prospective community-based cohort study.
|
25311314 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Unusual retinopathy associated with hemochromatosis.
|
25767899 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.
|
25293352 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
|
26365338 |
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
The prognostic role of hemochromatosis H63D allele in allogeneic hematopoietic stem cell transplantation.
|
22362121 |
2012 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
In conclusion, in Morocco the frequency of the HFE C282Y allele is very low and H63D mutation carriage occurs in almost 14% of the patients, a rate similar in chronic hepatitis patients and healthy controls.
|
22012716 |
2011 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
The H63D HFE variant appears less frequently associated with hemochromatosis, but its role in the neurodegenerative diseases has received more attention.
|
21346098 |
2011 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells.
|
21243428 |
2011 |