Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE We have focused on the commonly occurring H63D variant of the HFE gene as a disease modifier in a number of neurodegenerative diseases. 29315562

2018

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE The R<sub>2</sub> changes observed in both the human-H63D and mouse-H67D data suggest that modified white matter myelination is occurring in subjects with HFE mutations, potentially increasing vulnerability to neurodegenerative disorders. 26660104

2016

dbSNP: rs1799945
rs1799945
0.100 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
0.100 GeneticVariation BEFREE The H67D knock-in mouse can be used as a model to evaluate how the H63D HFE mutation contributes to neurodegenerative diseases. 23429074

2013

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE H63D HFE polymorphisms increase the risk of neurodegenerative disorders and, specifically, may increase amyotrophic lateral sclerosis (ALS) risk. 23813494

2013

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE The H63D HFE genetic variant has been repeatedly associated with a number of neurodegenerative diseases. 19560233

2011

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE At the cellular level, the HFE mutant protein resulting from the H63D HFE gene variant is associated with iron dyshomeostasis, increased oxidative stress, glutamate release, tau phosphorylation, and alteration in inflammatory response, each of which is under investigation as a contributing factor to neurodegenerative diseases. 21346098

2011

dbSNP: rs1799945
rs1799945
0.100 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
0.100 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
0.100 GeneticVariation BEFREE The C282Y mutation is more frequently associated with Hemochromatosis and the frequency of the H63D mutation is receiving increasing attention in neurodegenerative disorders. 17119292

2006