|
rs1799945
|
|
|
0.100 |
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 |
|
rs1799945
|
|
|
0.100 |
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 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
|
26365338 |
2015 |
|
rs1799945
|
|
|
0.100 |
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 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
H63D mutation in hemochromatosis alters cholesterol metabolism and induces memory impairment.
|
24439478 |
2014 |
|
rs1799945
|
|
|
0.100 |
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 |
|
rs1799945
|
|
|
0.100 |
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 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
HFE C282Y homozygotes and compound heterozygotes (C282Y/H63D) are at risk of developing manifestations of hemochromatosis.
|
24054178 |
2013 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Despite type I haemochromatosis (HC) is mainly associated with the HFE C282Y/C282Y genotype, a second genotype -C282Y/H63D- has mostly been described in other patients.
|
24339903 |
2013 |
|
rs1799945
|
|
|
0.100 |
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 |
|
rs1799945
|
|
|
0.100 |
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 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The prognostic role of hemochromatosis H63D allele in allogeneic hematopoietic stem cell transplantation.
|
22362121 |
2012 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Haemochromatosis HFE gene polymorphisms (p.H63D and p.C282Y) have shown significant association with several neurological diseases.
|
22048270 |
2011 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Two frequent mutations in the HFE gene, H63D and C282Y, are associated with hemochromatosis type I, an inherited iron overload disease and, possibly, with cancer.
|
20669231 |
2011 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Higher brain iron levels are associated with male gender and presence of highly prevalent allelic variants in genes encoding for iron metabolism proteins (hemochromatosis H63D (HFE H63D) and transferrin C2 (TfC2)).
|
21389980 |
2011 |
|
rs1799945
|
|
|
0.100 |
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 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument.
|
21679129 |
2011 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Simultaneous detection of HFE C282Y, H63D and S65C mutations associated with type 1 haemochromatosis using a multiplex luminex bead assay.
|
21736562 |
2011 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The distribution of C282Y and H63D variants of the HFE gene was determined in donors with evidence of phenotypical hemochromatosis.
|
20345568 |
2010 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The LIC in C282Y/C282Y patients was higher than in H63D/H63D patients (P = 0.26), while H63D homozygosis caused greater iron overload in PH patients than other genotypes.
|
20594259 |
2010 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
C282Y/H63D compound heterozygotes and other non-C282Y homozygotes which express the hepatic hemochromatosis phenotype frequently have evidence of steatosis or chronic hepatitis and lower body iron stores than C282Y homozygotes.
|
19359997 |
2009 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, clinical suspicion of hemochromatosis and elevated serum iron parameters should prompt HFE genotyping for C282Y and H63D.
|
19214108 |
2009 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.
|
19554541 |
2009 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The Hemochromatosis and Iron Overload Screening study screened 101 168 participants in primary care from 5 field centers in the United States and Canada with serum ferritin, transferrin saturation, and HFE genotyping for C282Y and H63D mutations.
|
20031565 |
2009 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We analyzed initial screening data in 7,343 HEmochromatosis and IRon Overload Screening (HEIRS) Study participants ages 25-29 years, including race/ethnicity and health information; transferrin saturation (TS) and ferritin (SF) measurements; and HFE C282Y and H63D genotypes.
|
17726683 |
2008 |