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 Biomarker disease HPO
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 CausalMutation disease CLINVAR
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker disease BEFREE The hemochromatosis gene affects the age of onset of sporadic Alzheimer's disease. 11445256 2001
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE Moreover, several studies have suggested that HFE mutations may be involved in several age-related chronic diseases such as Alzheimer's disease (AD) and coronary heart disease, but apparently paradoxically also with longevity. 12714262 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE Interaction of the H63D mutation in the hemochromatosis gene with the apolipoprotein E epsilon 4 allele modulates age at onset of Alzheimer's disease. 12584430 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease LHGDN Although confirmation is required, these findings suggest that HFE mutations are associated with increased oxidative stress and Braak stage, and that HFE and APOE genotypes are different between AD patients, high pathology and low pathology controls. 12707938 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation disease BEFREE Although confirmation is required, these findings suggest that HFE mutations are associated with increased oxidative stress and Braak stage, and that HFE and APOE genotypes are different between AD patients, high pathology and low pathology controls. 12707938 2003
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
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 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 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 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 (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