Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799945
rs1799945
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

dbSNP: rs1799945
rs1799945
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

dbSNP: rs1799945
rs1799945
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

dbSNP: rs1799945
rs1799945
0.800 GeneticVariation BEFREE These results indicate that the alterations in cholesterol metabolism associated with expression of H63D-HFE may contribute to the development of AD. 24439478

2014

dbSNP: rs1799945
rs1799945
0.800 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

dbSNP: rs1799945
rs1799945
0.800 GeneticVariation BEFREE The synthesis of available evidence supports mutant of HFE H63D polymorphism plays a protective role for AD risk. 21701828

2012

dbSNP: rs1799945
rs1799945
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

dbSNP: rs1799945
rs1799945
0.800 GeneticVariation 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

dbSNP: rs1799945
rs1799945
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

dbSNP: rs1799945
rs1799945
0.800 GeneticVariation 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

dbSNP: rs1799945
rs1799945
0.800 GeneticVariation BEFREE Here we tested the potential association of CAT53 with the risk of developing AD and searched for potential haplotypic associations of CAT53 with two common mutations (H63D, C282Y) in the HFE gene, also located at chromosome 6p21.3. 19429178

2009

dbSNP: rs1799945
rs1799945
0.800 GeneticVariation BEFREE In addition, in APOE epsilon 4 carriers, the mean age at onset of AD was earlier in men homozygous for the H63D variant (73.2+/-2.1 versus 78.7+/-1.6, p=0.05). 17628213

2009

dbSNP: rs1799945
rs1799945
0.800 GeneticVariation BEFREE In males, E4 significantly predisposed to AD in the absence of H63D, and H63D in the absence of E4 appeared protective against AD. 18525129

2008

dbSNP: rs1799945
rs1799945
0.800 GeneticVariation BEFREE The frequency of H63D mutation was higher in control population (29.9%) than in AD patients (18%), suggesting a protective role of this allele on AD either due to the presence of the mutation itself or through the effect of other related genes in the ancestral haplotype in which it is included. 17011669

2007

dbSNP: rs1799945
rs1799945
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

dbSNP: rs1799945
rs1799945
0.800 GeneticVariation BEFREE Thus, our study does not support the suggestion that H63D mutations may anticipate sporadic AD clinical presentation in susceptible individuals. 12714262

2003

dbSNP: rs1799945
rs1799945
0.800 GeneticVariation BEFREE Our data show that the mutant H63D allele potentially interacts with the ApoE epsilon4 allele to significantly reduce age at onset of AD compared to ApoE epsilon4 carriers alone, but has no effect on age at onset in ApoE epsilon4 non-carriers. 12584430

2003

dbSNP: rs1799945
rs1799945
G 0.800 CausalMutation CLINVAR

dbSNP: rs1800562
rs1800562
0.090 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

dbSNP: rs1800562
rs1800562
0.090 GeneticVariation BEFREE In the Epistasis Project, with 1757 cases of AD and 6295 controls, we studied 4 variants in 2 genes of iron metabolism: hemochromatosis (HFE) C282Y and H63D, and transferrin (TF) C2 and -2G/A. 20817350

2012

dbSNP: rs1800562
rs1800562
0.090 GeneticVariation 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

dbSNP: rs1800562
rs1800562
0.090 GeneticVariation BEFREE (2004); J Med Genet 41:261-265] reported that epistatic interaction between rs1049296 (P589S) in the transferrin gene (TF) and rs1800562 (C282Y) in the hemochromatosis gene (HFE) results in significant association with risk for AD. 20029940

2010

dbSNP: rs1800562
rs1800562
0.090 GeneticVariation BEFREE In a population-based cohort study, including 268 incident AD patients and 2079 control individuals, we investigated the influence of the HFE C282Y and H63D variants and the apolipoprotein E4 (APOE epsilon 4) allele on the incidence, and age at onset of AD. 17628213

2009

dbSNP: rs1800562
rs1800562
0.090 GeneticVariation BEFREE In contrast, we found a significant negative association of the C282Y HFE mutation with AD, thus supporting a putative protective role of this protein variant in neurodegeneration. 19429178

2009

dbSNP: rs1800562
rs1800562
0.090 GeneticVariation 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