HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE In single analysis, HFE 282Y allele yielded a 3-fold risk reduction in the whole cohort of patients (P<0.0001), confirmed in AD and VaD, reaching a 5-fold risk reduction in MCI (P = 0.0019). 29518107 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE It has been reported that persons carrying the H63D variant in their hemochromatosis (HFE) gene are at increased risk of Alzheimer's disease (AD). 26170247 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker disease BEFREE Our study suggests that APOE ε4 remains the best predictor of broad AD risk when compared to multiple other genetic factors with modest effects, that phenotypic heterogeneity in broad AD can complicate simple polygenic risk modeling, and supports the association between HFE and AD risk in individuals without APOE ε4. 25880661 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease 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
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE The H63D variant of the hemochromatosis (HFE) gene, when expressed in carriers of the apolipoprotein E4 allele, is implicated as a risk factor for earlier onset of Alzheimer's disease (AD). 24439478 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker disease BEFREE Transferrin and HFE genes interact in Alzheimer's disease risk: the Epistasis Project. 20817350 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE Whether the variations in the hemochromatosis (HFE) gene increase Alzheimer's disease (AD) risk is still undetermined. 21701828 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE These changes may explain why C282Y-HFE is a risk factor for colon and breast cancer and possibly protective against Alzheimer's disease while H63D-HFE is a risk factor for neurodegenerative diseases. 21243428 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease 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
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE (2004); J Med Genet 41:261-265] reported that epistatic interaction between rs1049296 (rs1049296" genes_norm="7018">P589S) in the transferrin gene (TF) and rs1800562 (C282Y) in the hemochromatosis gene (HFE) results in significant association with risk for AD. 20029940 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE Previous studies in cell models have shown the H63D HFE variant to result in increased cellular iron, oxidative stress, glutamate dyshomeostasis, and an increase in tau phosphorylation; all processes thought to contribute to AD pathology. 20060900 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease 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
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE Our results suggest that HFE variants are not strong determinants of AD in the general population but may modify the age of onset. 17628213 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE Recent studies that alleles in the hemochromatosis gene may accelerate the onset of Alzheimer's disease by five years have validated interest in the model in which metals (particularly iron) accelerate disease course. 19166904 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE CAT53 and HFE alleles in Alzheimer's disease: a putative protective role of the C282Y HFE mutation. 19429178 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the iron overload disorder of hereditary hemochromatosis (C282Y, H63D and S65C) were evaluated as factors in sporadic AD in an Ontario sample in which folic acid fortification has been mandatory since 1998. 18525129 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker disease BEFREE HFE participates in the regulation of iron metabolism, its mutations are primary cause of hereditary hemochromatosis and appear to be more frequent in neurodegenerative disorders such as Alzheimer's disease and amyotrophic lateral sclerosis. 18325820 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE APOE epsilon 4 allele was associated with an increased risk of AD and an earlier age at onset, whereas no association was found between TFC2 or HFE C282Y mutation and disease susceptibility. 17011669 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker disease CTD_human Iron genes, iron load and risk of Alzheimer's disease. 17047092 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE Recently a number of studies have begun to investigate the frequency of mutations in the HFE gene in AD. 17119292 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease LHGDN Evaluation of HFE (hemochromatosis) mutations as genetic modifiers in sporadic AD and MCI. 15013567 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker disease CTD_human We have examined the interaction between the C2 variant of the transferrin (TF) gene and the C282Y allele of the haemochromatosis (HFE) gene as risk factors for developing AD. 15060098 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease LHGDN We have examined the interaction between the C2 variant of the transferrin (TF) gene and the C282Y allele of the haemochromatosis (HFE) gene as risk factors for developing AD. 15060098 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE We have examined the interaction between the C2 variant of the transferrin (TF) gene and the C282Y allele of the haemochromatosis (HFE) gene as risk factors for developing AD. 15060098 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE The genetic discovery that alleles in the hemochromatosis gene accelerate the onset of disease by five years has certainly validated interest in the metallobiology of AD as originally described by biochemical criteria. 15270200 2004