|
Hypertensive disease
|
|
0.840 |
GeneticVariation
|
BEFREE |
Compared with WT/WT, H63D</span>/WT and H63D</span>/H6</span>3D participants had a 2% to 4% and 4% to 7% absolute increase in hypertension risk at each visit, respectively.
|
30571559 |
2019 |
|
Hypertensive disease
|
|
0.840 |
GeneticVariation
|
BEFREE |
Multivariate analysis revealed that the odds of CHF was higher in females [Odds Ratio (OR) = 2·9, P < 0·01], individuals with pre-HCT chest radiation (OR = 4·7, P = 0·05), hypertension (OR = 2·9, P = 0·01), and with variants of genes coding for the NAD(P)H-oxidase subunit RAC2 (rs13058338, 7508T→A; OR = 2·8, P < 0·01), HFE (rs1799945, 63C→G; OR = 2·5, P = 0·05) or the doxorubicin efflux transporter ABCC2 (rs8187710, 1515G→A; OR = 4·3, P < 0·01).
|
23927520 |
2013 |
|
Hypertensive disease
|
|
0.840 |
GeneticVariation
|
BEFREE |
According to GWAS studies, iron regulatory protein HFE gene variant H63D (rs1799945) was associated with hypertension, an observation which we were able to confirm also in our TAMRISK cohort.
|
28151915 |
2017 |
|
Hypertensive disease
|
|
0.840 |
GeneticVariation
|
BEFREE |
We found that individuals with the mutated form of the H63D polymorphic site (G-allele) had a 1.4-fold risk (P = 0.037, 95% confidence interval [CI] 1.02-1.89) for hypertension at the age of 50 years compared with the CC genotype carriers.
|
25634189 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
The aims of this study were: 1) To determine the prevalence of the hemochromatosis associated mutations C282Y and H63D of the HFE gene in patients from Southern Germany with hemochromatosis phenotype; and 2) to test two new, time- and cost-saving methods: automated SSCP-based capillary electrophoresis (SSCP-CE) and a PCR-ELISA technique for the analysis of HFE mutations.
|
11686223 |
2001 |
|
Hemoglobin measurement
|
|
0.800 |
GeneticVariation
|
GWASDB |
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.
|
19820698 |
2009 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
The allelic frequencies of the HFE mutations (0.017 for C282Y mutation and 0.124 for H63D mutation) did not differ between patients with CRI and healthy controls.
|
16138214 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
Whereas a recent study reported an increased risk of colorectal cancer associated with any HFE germ line mutation (C282Y or H63D), other investigators have concluded there is no increased risk, or that any increase is dependent on polymorphisms in HFE-interacting genes such as the transferrin receptor (TFR).
|
15941956 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
Compared with those who had no HFE mutation, the relative risk (RR) for hemochromatosis was greatest for C282Y homozygotes (RR = 147), compound heterozygotes (RR = 19), and H63D homozygotes (RR = 9).
|
10403350 |
1999 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
We assessed iron intake, mutations in the HFE gene that are associated with hereditary hemochromatosis (i.e., H63D and C282Y), and plasma biochemical measures of total body iron, including transferrin saturation and the ratio of the concentrations of transferrin receptors to ferritin.
|
15956653 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
In conclusion, our study is the first to indicate that being a carrier of the H63D hemochromatosis mutation is a risk factor for nephropathy in type 2 diabetic patients.
|
11423500 |
2001 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
She was heterozygous for the common H63D mutation of the hemochromatosis-associated HFE gene.
|
17919354 |
2007 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
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 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population.
|
12624489 |
2003 |
|
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 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
We observed no significant impact of H63D or C282Y heterozygosity on age at AD symptoms onset or diagnosis, age at onset of cognitive symptoms (AD and MCI combined), rates of MCI-to-AD conversion or specific neuropsychological deficits.
|
15013567 |
2004 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Hereditary haemochromatosis has been linked with C282Y and H63D mutations of the HFE gene.
|
18263976 |
2008 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Classical HH is associated with mutations in HFE (C282Y homozygotes or C282Y/H63D compound heterozygotes) and is almost exclusively found in populations of northern European descent.
|
19034258 |
2008 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
It is unclear whether screening of relatives of C282Y and H63D heterozygotes (other than compound heterozygotes) for hemochromatosis will detect sufficient numbers of cases to justify introduction of this screening strategy.
|
12121511 |
2002 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Two other mutations, 187G, a histidine to aspartate at amino acid 63 (H63D), and 193T, a serine to cysteine at amino acid 65 (S65C), appear to be associated with milder forms of hereditary hemochromatosis.
|
12547216 |
2003 |
|
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our study shows that the HFE C282Y and H63D are determinants of iron parameters in the elderly and will be effective in detecting individuals at high risk of hemochromatosis.
|
12673276 |
2003 |
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
These findings support our hypothesis that the presence of the HFE H63D allele enables factors that trigger neurodegenerative processes associated with AD and predisposes cells to cytotoxcity.
|
20734416 |
2010 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
GeneticVariation
|
BEFREE |
To estimate the prevalence of the HFE mutations C282Y and H63D in the US population.
|
11325323 |
2001 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The purposes of this current study were to determine the prevalence of the C282Y and H63D mutations in the Balearic Islands and the genotypic characterization of patients diagnosed with HH, as well as those with iron overload and liver diseases.
|
11903355 |
2002 |