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 |
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 |
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
|
GWASDB |
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
|
21909115 |
2011 |
Hypertensive disease
|
|
0.840 |
GeneticVariation
|
GWASCAT |
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
|
21909115 |
2011 |
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
These diagnoses are more common than HH among patients with elevated serum ferritin who are not C282Y homozygotes or C282Y/H63D compound heterozygotes.
|
31335359 |
2019 |
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Three loss-of-function mutations in the hemochromatosis gene (HFE), namely, C282Y (c.845G>A), H63D (c.187C>G), and S65C (c.193A>T), account for the vast majority of HH cases.
|
30339210 |
2019 |
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 |
Corpuscular Hemoglobin Concentration Mean
|
|
0.800 |
GeneticVariation
|
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants).
|
27124787 |
2016 |
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
In particular, human haemochromatosis protein (HFE) is involved in iron metabolism, and HFE H63D polymorphism has been related to the risk of amyotrophic lateral sclerosis and Alzheimer's disease.
|
26613252 |
2016 |
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Statistically significant differences were observed for genotype distribution of C282Y (P < 0.001) and H63D (P = 0.013) between the general population and the patients diagnosed with HH.
|
27173269 |
2016 |
Corpuscular Hemoglobin Concentration Mean
|
|
0.800 |
GeneticVariation
|
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
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 |
Hemoglobin measurement
|
|
0.800 |
GeneticVariation
|
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Hereditary hemochromatosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
|
26365338 |
2015 |
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
These results suggest okra may be beneficial in people expressing the H63D variant to reduce the risk of AD and other neurodegenerative diseases related to oxidative stress.
|
26170247 |
2015 |
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 |
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
We used the eMERGE Network, a multicenter cohort with genotype data linked to electronic medical records, to estimate the diagnostic rate and clinical penetrance of HH in 98 individuals homozygous for the variant coding for HFE p.Cys282Tyr and 397 compound heterozygotes with variants resulting in p.[His63Asp];[Cys282Tyr].
|
26365338 |
2015 |
Alzheimer's Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
In AtAD, HFE SNP rs1799945 was the strongest predictor of disease; variation in HFE has previously been implicated in AD risk in non-ε4 carriers.
|
25880661 |
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 |