|
rs1050210428
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Recently, Coppola and colleagues demonstrated that a rare microtubule-associated protein tau (MAPT) sequence variant, c.454G>A (p.A152T) significantly increases the risk of frontotemporal dementia (FTD) spectrum disorders and Alzheimer disease (AD) in a screen of 15,369 subjects.
|
23518664 |
2014 |
|
rs1235948930
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
These findings indicate that the major sites of tau phosphorylation, and the expression of kinases involved in tau phosphorylation are active in P</span>310L mutation as in AD and other tauopathies.
|
14757934 |
2003 |
|
rs1429412356
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Sequencing of <i>APP</i> in familial early-onset AD identified missense mutations that cause AD, while a recently discovered coding variant, APP A673T, reduces the risk for AD.
|
28003277 |
2017 |
|
rs1467967
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, pooled results suggest that the neither rs3785883 nor rs1467967 is associated with AD risk under all the four genetic models.
|
28415654 |
2017 |
|
rs1467967
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Published studies revealed that the microtubule-associated protein tau (MAPT) gene polymorphisms increased Alzheimer's disease (AD) risk; the associations of 4 single nucleotide polymorphisms (SNPs, rs242557G/A, rs2471738C/T, rs3785883G/A and rs1467967A/G) of the MAPT gene with AD risk, however, remain inconclusive.
|
28415654 |
2017 |
|
rs1483785186
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Preventing the increase in GAPDH-SNO abundance in both cultured neurons and mice, either by overexpression of the nitrosylation mutant of GAPDH (GAPDH C150S) or by treatment with the GAPDH nitrosylation inhibitor CGP3466B (also known as omigapil), abrogated Aβ<sub>1-42</sub>-induced tau acetylation, memory impairment, and locomotor dysfunction in mice, suggesting that this drug might be repurposed to treat patients with AD.
|
29559585 |
2018 |
|
rs17649553
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, in order to discover potential AD-related loci, we investigated the association between late-onset AD (LOAD) susceptibility and nine single-nucleotide polymorphisms (SNPs) (rs11724635 of BST1, rs12637471 of MCCC1, rs15553999 of TMEM229, rs17649553 of MAPT, rs34311866 of TMEM175-GAK-DGKQ, rs356182 of SNCA, rs6430538 of ACMSD-TMEM163, rs76904798 of LRRK2 and rs823118 of RAB7L1-NUCKS1) which were reported to have genome-wide significant associations with PD risk in a recent Genome Wide Association Study performed among white population.
|
26738859 |
2017 |
|
rs63749855
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
PSEN1 p.L226R was found in an early-onset AD (EOAD) family characterized by language impairment at disease onset, a novel probably pathogenetic variant (p.D534H) was identified in a frontal-temporal dementia gene, TANK-binding kinase 1 (TBK1) with a typical AD phenotype in a late-onset AD (LOAD) family, and a PSEN2p.H169N mutation and two benign MAPT (p.Q230R and p.V48L) mutations were detected in three EOAD patients.
|
30549411 |
2019 |
|
rs63750072
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
PSEN1 p.L226R was found in an early-onset AD (EOAD) family characterized by language impairment at disease onset, a novel probably pathogenetic variant (p.D534H) was identified in a frontal-temporal dementia gene, TANK-binding kinase 1 (TBK1) with a typical AD phenotype in a late-onset AD (LOAD) family, and a PSEN2p.H169N mutation and two benign MAPT (p.Q230R and p.V48L) mutations were detected in three EOAD patients.
|
30549411 |
2019 |
|
rs7521
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The study assessed whether six MAPT haplotype-tagging polymorphisms (rs1467967, rs242557, rs3785883, rs2471738, del-In9, and rs7521) and MAPT haplotypes are associated with AD pathology, as measured by cerebrospinal fluid (CSF) AD biomarkers amyloid β<sub>1-42</sub> (Aβ<sub>1-42</sub> ), total tau (t-tau), tau phosphorylated at epitopes 181 (p-tau<sub>181</sub> ), 199 (p-tau<sub>199</sub> ), and 231 (p-tau<sub>231</sub> ), and visinin-like protein 1 (VILIP-1).
|
30329219 |
2018 |
|
rs762046989
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
PSEN1 p.L226R was found in an early-onset AD (EOAD) family characterized by language impairment at disease onset, a novel probably pathogenetic variant (p.D534H) was identified in a frontal-temporal dementia gene, TANK-binding kinase 1 (TBK1) with a typical AD phenotype in a late-onset AD (LOAD) family, and a PSEN2p.H169N mutation and two benign MAPT (p.Q230R and p.V48L) mutations were detected in three EOAD patients.
|
30549411 |
2019 |
|
rs763459583
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
By Western blotting, we found that PrP(C) overexpression down-regulated tau protein and Aβ oligomer binding alleviated the tau reduction induced by wild type but not M128V PrP(C), the high AD risk polymorphic allele in human prion gene.
|
23805846 |
2013 |
|
rs895897745
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
A functional polymorphism in exon 2 of the cathepsin D gene (C-->T, Ala224Val) has recently been reported to increase the risk for AD in some of the Caucasian populations, with a significant overrepresentation of the T allele, but these reports have not been universally duplicated.
|
15211064 |
2004 |
|
rs9468
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We also observed suggestive association between AD and the marker rs9468, which defines the H1 haplotype, an extended haplotype that spans the MAPT gene and has previously been implicated in other neurodegenerative disorders including Parkinson's disease, progressive supranuclear palsy, and corticobasal degeneration.
|
22027014 |
2012 |
|
rs63750376
|
|
Alzheimer's Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
We have reported previously a tau transgenic mouse model (Tg30tau) overexpressing human 4R1N double-mutant tau (P301S and G272V) and that develops AD (Alzheimer's disease)-like NFTs (neurofibrillary tangles) in an age-dependent manner.
|
20658993 |
2010 |
|
rs63750376
|
|
Alzheimer's Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
The tauopathy in P301L and G272V does not appear to be associated with an evident increase in CSF levels of Ptau-181 in FTD patients with these tau mutations, in contrast with findings in patients with AD.
|
12975285 |
2003 |
|
rs2471738
|
|
Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
This study demonstrated that different variants in MAPT were associated with AD (rs2471738: OR= 1.04, 95%CI = 1.00 - 1.09; H2: OR = 0.94, 95% CI = 0.91 - 0.97), PD (H2: OR = 0.76, 95% CI = 0.74 - 0.79), PSP (rs242557: OR = 1.96, 95% CI = 1.71 - 2.25; rs2471738: OR = 1.85, 95% CI = 1.
|
28402959 |
2017 |
|
rs2471738
|
|
Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Published studies revealed that the microtubule-associated protein tau (MAPT) gene polymorphisms increased Alzheimer's disease (AD) risk; the associations of 4 single nucleotide polymorphisms (SNPs, rs242557G/A, rs2471738C/T, rs3785883G/A and rs1467967A/G) of the MAPT gene with AD risk, however, remain inconclusive.
|
28415654 |
2017 |
|
rs2471738
|
|
Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Furthermore, a significant association of SNP rs2471738 with AD risk was found under all the four models (allelic: OR = 1.11, 95% CI = 1.01, 1.20, P = 0.021; dominant: OR = 1.10, 95% CI = 1.00, 1.21, P = 0.046; recessive: OR = 1.18, 95% CI = 1.05, 1.32, P = 0.004; additive: OR = 1.20, 95% CI = 1.07, 1.34, P = 0.002) models.
|
28415654 |
2017 |
|
rs2471738
|
|
Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Subjects carrying both the tau (intron 9, rs2471738) T allele (CT and TT genotypes) and the LRP1 (exon 3, rs1799986) T allele (CT and TT genotypes) had a 6 times higher risk of developing AD than subjects without these risk genotypes (odds ration = 6.20, 95% confidence interval = 1.74-22.05, p = 0.005), and this genetic interaction was observed in either the presence or the absence of the APOE epsilon4 allele.
|
19684401 |
2009 |
|
rs3785883
|
|
Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
The study assessed whether six MAPT haplotype-tagging polymorphisms (rs1467967, rs242557, rs3785883, rs2471738, del-In9, and rs7521) and MAPT haplotypes are associated with AD pathology, as measured by cerebrospinal fluid (CSF) AD biomarkers amyloid β<sub>1-42</sub> (Aβ<sub>1-42</sub> ), total tau (t-tau), tau phosphorylated at epitopes 181 (p-tau<sub>181</sub> ), 199 (p-tau<sub>199</sub> ), and 231 (p-tau<sub>231</sub> ), and visinin-like protein 1 (VILIP-1).
|
30329219 |
2018 |
|
rs3785883
|
|
Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Published studies revealed that the microtubule-associated protein tau (MAPT) gene polymorphisms increased Alzheimer's disease (AD) risk; the associations of 4 single nucleotide polymorphisms (SNPs, rs242557G/A, rs2471738C/T, rs3785883G/A and rs1467967A/G) of the MAPT gene with AD risk, however, remain inconclusive.
|
28415654 |
2017 |
|
rs3785883
|
|
Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
However, pooled results suggest that the neither rs3785883 nor rs1467967 is associated with AD risk under all the four genetic models.
|
28415654 |
2017 |
|
rs3785883
|
|
Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Single-nucleotide polymorphisms (SNPs) located in the gene encoding the regulatory subunit of the protein phosphatase 2B (PPP3R1, rs1868402) and the microtubule-associated protein tau (MAPT, rs3785883) gene were recently associated with higher cerebrospinal fluid (CSF) tau levels in samples from the Knight Alzheimer's Disease Research Center at Washington University (WU) and Alzheimer's Disease Neuroimaging Initiative (ADNI).
|
23727081 |
2014 |
|
rs63751438
|
|
Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Finally, we determined that the microvasculature length in two other Alzheimer's disease mouse models, APP and PS1 double-transgenic mice and P301S Tau-transgenic mice, is also shortened in the dentate gyrus.
|
29260371 |
2018 |