Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2230288
rs2230288
GBA
0.720 GeneticVariation BEFREE Mutation carriers (n = 60; 4.4%) and E326K carriers (n = 65; 4.7%) had a higher prevalence of dementia (mutations, odds ratio = 5.1; P = 9.7 × 10(-6) ; E326K, odds ratio = 6.4; P = 5.7 × 10(-7) ) and lower performance on Letter-Number Sequencing (mutations, corrected P[Pc ] = 9.0 × 10(-4) ; E326K, Pc  = 0.036), Trail Making B-A (mutations, Pc  = 0.018; E326K, Pc  = 0.018), and Benton Judgment of Line Orientation (mutations, Pc  = 0.0045; E326K, Pc  = 0.0013). 26296077

2016

dbSNP: rs2230288
rs2230288
GBA
0.720 GeneticVariation BEFREE A significantly higher proportion of E326K carriers (10 of 21 [47.6%]; P = .01) and GBA variant carriers (15 of 39 [38.5%]; P = .04) progressed to mild cognitive impairment or dementia. 27571329

2016

dbSNP: rs6265
rs6265
0.060 GeneticVariation BEFREE Effect of BDNF Val66Met polymorphism on regional white matter hyperintensities and cognitive function in elderly males without dementia. 24275008

2014

dbSNP: rs6265
rs6265
0.060 GeneticVariation BEFREE Neither allelic nor genotypic BDNF Val66Met SNP was associated with dementia or with BP (associated or not with clinical manifestation of dementia). 30220011

2018

dbSNP: rs6265
rs6265
0.060 GeneticVariation BEFREE Brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and post-stroke dementia: a hospital-based study from northern Iran. 27071687

2016

dbSNP: rs6265
rs6265
0.060 GeneticVariation BEFREE Role of BDNF val66met polymorphism on the association between physical activity and incident dementia. 20172629

2011

dbSNP: rs6265
rs6265
0.060 GeneticVariation BEFREE A total of 1,081 adults without dementia (375 healthy subjects and 706 individuals with mild cognitive impairment) were recruited from the Alzheimer's Disease Neuroimaging Initiative (ADNI) to test the influence of BDNF Val66Met polymorphism on cognitive impairment, brain structure atrophy, and change in the levels of CSF biomarkers. 30775992

2019

dbSNP: rs6265
rs6265
0.060 GeneticVariation BEFREE Among 200 outpatients with dementia and MCI, 146 outpatients with mild AD or A-MCI were recruited and divided into two genotypic groups, valine homozygosity (Val/Val) and methionine (Met) carriers, based on the representative BDNF functional polymorphism Val66Met. 22699449

2012

dbSNP: rs759834365
rs759834365
0.060 GeneticVariation BEFREE A total of 1,081 adults without dementia (375 healthy subjects and 706 individuals with mild cognitive impairment) were recruited from the Alzheimer's Disease Neuroimaging Initiative (ADNI) to test the influence of BDNF Val66Met polymorphism on cognitive impairment, brain structure atrophy, and change in the levels of CSF biomarkers. 30775992

2019

dbSNP: rs759834365
rs759834365
0.060 GeneticVariation BEFREE Effect of BDNF Val66Met polymorphism on regional white matter hyperintensities and cognitive function in elderly males without dementia. 24275008

2014

dbSNP: rs759834365
rs759834365
0.060 GeneticVariation BEFREE Role of BDNF val66met polymorphism on the association between physical activity and incident dementia. 20172629

2011

dbSNP: rs759834365
rs759834365
0.060 GeneticVariation BEFREE Neither allelic nor genotypic BDNF Val66Met SNP was associated with dementia or with BP (associated or not with clinical manifestation of dementia). 30220011

2018

dbSNP: rs759834365
rs759834365
0.060 GeneticVariation BEFREE Among 200 outpatients with dementia and MCI, 146 outpatients with mild AD or A-MCI were recruited and divided into two genotypic groups, valine homozygosity (Val/Val) and methionine (Met) carriers, based on the representative BDNF functional polymorphism Val66Met. 22699449

2012

dbSNP: rs759834365
rs759834365
0.060 GeneticVariation BEFREE Brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and post-stroke dementia: a hospital-based study from northern Iran. 27071687

2016

dbSNP: rs63751273
rs63751273
0.050 GeneticVariation BEFREE Tau pathology in a family with dementia and a P301L mutation in tau. 10218629

1999

dbSNP: rs63751273
rs63751273
0.050 GeneticVariation BEFREE Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history). 12876142

2003

dbSNP: rs63751273
rs63751273
0.050 GeneticVariation BEFREE Because the mutations (V337M, P301L) are associated with genetic tauopathies, these results suggest that a factor in disease etiology of genetic tauopathies and other dementias with altered tau is a greater abundance of tau in the cytoplasm due to decreased binding to microtubules. 11170176

2001

dbSNP: rs63751273
rs63751273
0.050 GeneticVariation BEFREE Altogether, these results suggest a sex dependent neuroprotective effect of LFPD in P301L-tg mice, suggesting that lifestyle intervention strategies may be clinically relevant for delaying the onset of cognitive impairment and dementia, especially in females. 28456717

2017

dbSNP: rs63751273
rs63751273
0.050 GeneticVariation BEFREE While tau modification and associated neuronal loss and hypometabolism start in the entorhinal cortex (EC) in early AD patients, the mechanism by which mutant P301L hTau leads to dementia is not fully elucidated. 28634382

2017

dbSNP: rs74315401
rs74315401
0.050 GeneticVariation BEFREE Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited prion disease due to a substitution of proline for leucine at codon 102 in the Prion Protein gene, and characterized by early walking difficulties and much later occurring dementia. 21167505

2011

dbSNP: rs74315401
rs74315401
0.050 GeneticVariation BEFREE Gerstmann-Sträussler-Scheinker syndrome caused by the P102L mutation in the prion protein gene (GSS102) is usually characterized by the onset of slowly progressive cerebellar ataxia, with dementia occurring much later. 28131204

2017

dbSNP: rs74315401
rs74315401
0.050 GeneticVariation BEFREE Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-Scheinker syndrome P102L mutation complicated with dementia. 12200619

2002

dbSNP: rs74315401
rs74315401
0.050 GeneticVariation BEFREE Conclusions Primary dementia with prominent frontotemporal signs is a new phenotypical expression of P102L-related GSS that coexists in the same family with the ataxic form of the disease. 19030774

2008

dbSNP: rs74315401
rs74315401
0.050 GeneticVariation BEFREE In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dementia and severe cortical damage indistinguishable from the clinicopathological phenotype of Creutzfeldt-Jakob disease (CJD). 8520719

1995

dbSNP: rs1217691063
rs1217691063
0.040 GeneticVariation BEFREE Plasma total homocysteine levels and the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene: a study in an Italian population with dementia. 11589919

2001