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

dbSNP: rs75932628
rs75932628
0.070 GeneticVariation BEFREE However, we did not find evidence for association of the R47H variant with other neurodegenerative diseases. 31513029

2020

dbSNP: rs75932628
rs75932628
0.070 GeneticVariation BEFREE Recent genome-wide association studies revealed TREM2 rs75932628-T variant to be associated with Alzheimer's disease (AD) and other neurodegenerative diseases. 27051467

2016

dbSNP: rs75932628
rs75932628
0.070 GeneticVariation BEFREE A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, i.e. frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD). 25936935

2015

dbSNP: rs75932628
rs75932628
0.070 GeneticVariation BEFREE The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders. 26076170

2015

dbSNP: rs75932628
rs75932628
0.070 GeneticVariation BEFREE TREM2 rs75932628 is unlikely to play a major role in the pathogenesis of these neurodegenerative diseases. 26058955

2015

dbSNP: rs75932628
rs75932628
0.070 GeneticVariation BEFREE Recently, a rare missense variant (p.R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, including Alzheimer disease. 24535663

2014

dbSNP: rs75932628
rs75932628
0.070 GeneticVariation BEFREE With this in mind we set out to assess the genetic association of the Alzheimer's disease-related risk variant in TREM2 (rs75932628, p.R47H) with other related neurodegenerative disorders. 23800361

2013

dbSNP: rs121912438
rs121912438
0.050 GeneticVariation BEFREE Recently a tissue-specific and selective upregulation of the multidrug efflux transporter ABCB1 or P-glycoprotein (P-gp) in the spinal cord of both patients and the mutant SOD1-G93A mouse model of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease that prevalently kills motor neurons has been reported. 27158936

2016

dbSNP: rs121912438
rs121912438
0.050 GeneticVariation BEFREE We used SOD1(G93A) mice as a model, which exhibit the motor neuron-specific neurodegenerative disease, amyotrophic lateral sclerosis. 23470532

2013

dbSNP: rs121912438
rs121912438
0.050 GeneticVariation BEFREE We then analyzed molecular changes in microglia during neurodegenerative disease activation using the SOD1(G93A) mouse model of amyotrophic lateral sclerosis (ALS). 23850290

2013

dbSNP: rs121912438
rs121912438
0.050 GeneticVariation BEFREE Transgenic mice carrying the G93A mutation of the superoxide dismutase 1 (SOD1) gene develop a neurodegenerative disease closely mimicking human ALS. 20450936

2010

dbSNP: rs121912438
rs121912438
0.050 GeneticVariation BEFREE These results show that in the SOD1(G93A) model of neurodegenerative diseases, the concentration of brain glutamate (determined with (1)H-MRS) can be lowered by inhibiting in vivo the synthesis of glutamine with non-toxic doses of MSO. 20060132

2010

dbSNP: rs6265
rs6265
0.040 GeneticVariation BEFREE Our findings suggest that BDNF Val66Met and sex should be considered in future endeavors aimed at treating or preventing neurodegenerative disorders. 30448615

2019

dbSNP: rs759834365
rs759834365
0.040 GeneticVariation BEFREE Our findings suggest that BDNF Val66Met and sex should be considered in future endeavors aimed at treating or preventing neurodegenerative disorders. 30448615

2019

dbSNP: rs6265
rs6265
0.040 GeneticVariation BEFREE The common human Val66Met polymorphism of BDNF has been implicated in the pathophysiology of neuropsychiatric and neurodegenerative disorders, and in the outcome of pro-adaptive and therapeutic treatments. 30067287

2018