|
rs2230288
|
|
T |
0.720 |
SusceptibilityMutation |
CLINVAR |
|
|
|
|
rs1057518919
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1345176461
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs137852959
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs148881970
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs555145190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs63750301
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs63751011
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs9357347
|
|
|
0.010 |
GeneticVariation |
BEFREE |
<b>Methods:</b> This study analyzed the association of rs9357347 with AD-related cerebrospinal fluid (CSF) and neuroimaging markers from 201 cognitively normal (CN) older adults, 349 elders with mild cognitive impairment (MCI), and 172 elders with AD dementia from the Alzheimer's Disease Neuroimaging Initiative (ADNI).
|
31379492 |
2019 |
|
rs7493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
(3-8) The importance of cardiovascular risk factors in the pathomechanism of Alzheimer's disease (AD) and vascular dementia (VD)(9-13) prompted us to examine the genetic effect of PON2 gene codon 311 (Cys-->Ser; PON2*S) polymorphism and the relationship between the PON2*S allele and the other dementia risk factor, the apoE polymorphism in these dementias.
|
11803456 |
2002 |
|
rs63751399
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.
|
11094121 |
2000 |
|
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 |
|
rs63749855
|
|
|
0.010 |
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 |
|
rs63750376
|
|
|
0.030 |
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 |
|
rs63750424
|
|
|
0.030 |
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 |
|
rs63750635
|
|
|
0.010 |
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 |
|
rs63751438
|
|
|
0.020 |
GeneticVariation |
BEFREE |
P301S mutant human tau transgenic mice manifest early symptoms of human tauopathies with dementia and altered sensorimotor gating.
|
21698260 |
2011 |
|
rs2298813
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A528T was tested for association with PD risk, the development of dementia, and in a subset of patients (n = 103) for associations with established AD cerebrospinal fluid (CSF) biomarkers measured at the time of PD diagnosis.
|
29567423 |
2018 |
|
rs63750900
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R269H PS1 mutation was associated with early age of dementia onset, higher amounts of total A beta and A beta x-42, and increased neuronal cytoskeletal changes.
|
9189043 |
1997 |
|
rs63750756
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.
|
10412802 |
1999 |
|
rs63750264
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel mutation in the APPgene (V717L) has been found in a family with a history of dementia, beginning in the mid to late 30s.
|
10867787 |
2000 |
|
rs142690225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment.
|
18727676 |
2008 |
|
rs533667466
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment.
|
18727676 |
2008 |
|
rs16944
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A recent study has shown that a promoter polymorphism of the IL-1β gene (rs16944) is associated with cognitive performance in elderly males without dementia.
|
21614008 |
2011 |
|
rs2230288
|
|
|
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 |