Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.100 GeneticVariation BEFREE Because the H63D HFE polymorphism is present in 30% of patients with ALS, studying disease progression in patients who receive statins, stratified for HFE genotype, may guide therapy. 26799243

2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.100 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
HFE ; LOC108783645
0.100 GeneticVariation BEFREE Differently from what observed in the mouse model of ALS, the HFE p.His63Asp polymorphism has no effect on ALS phenotype in this large series of Italian ALS patients. 26174855

2015
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.100 GeneticVariation BEFREE Our findings indicate H63D HFE modifies ALS pathophysiology via pathways involving oxidative stress, gliosis and disruption of cellular functions. 25283820

2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.100 GeneticVariation BEFREE However, the H63D polymorphism does not appear to be associated with ALS. 24604426

2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.100 GeneticVariation BEFREE After meta-analysis of previous studies and current findings we conclude that the H63D polymorphism in HFE is not associated with susceptibility to ALS, age at disease onset, or survival. 23063643

2013
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.100 GeneticVariation BEFREE Combined with previous reports suggesting the H63D polymorphism is associated with ALS, these results support a model wherein the H63D polymorphism is involved in ALS by means of pathways involving SOD1 but may limit cellular damage in individuals who develop disease. 23813494

2013
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.100 GeneticVariation BEFREE Our results in this large cohort of ALS patients indicate that H63D polymorphism is not associated with SALS in the French population. 22425014

2012
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
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
HFE ; LOC108783645
0.100 GeneticVariation BEFREE Sporadic ALS was significantly related to the H63D polymorphism in heterozygous carriers (odds ratio 3.10, 95%CI: 1.49-6.47, P=0.002). 20642794

2011
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.100 GeneticVariation BEFREE These findings suggest that H63D mutations in HFE play a role in the pathogenesis of ALS in various populations. 17210810

2007