|
rs242557
|
|
G |
0.860 |
GeneticVariation |
GWASCAT |
Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.
|
31059154 |
2019 |
|
rs242557
|
|
|
0.860 |
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 |
|
rs242557
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Although the H1c-specific rs242557/A allele is a risk factor for progressive supranuclear palsy, carriers of this allele may exhibit better cognition than non-carriers in patients with the atypical parkinsonian syndrome.Further studies are needed.
|
29076559 |
2017 |
|
rs242557
|
|
|
0.860 |
GeneticVariation |
BEFREE |
<i>MAPT</i> H1c haplotype (rs242557) has previously been identified as a genetic risk factor for progressive supranuclear palsy and corticobasal degeneration.
|
28100725 |
2017 |
|
rs242557
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Testing for association of CBD with top progressive supranuclear palsy (PSP) GWAS single-nucleotide polymorphisms (SNPs) identified associations at MOBP (3p22; rs1768208; P=2.07 × 10(-7)) and MAPT H1c (17q21; rs242557; P=7.91 × 10(-6)).
|
26077951 |
2015 |
|
rs242557
|
|
|
0.860 |
GeneticVariation |
GWASDB |
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
|
21685912 |
2011 |
|
rs242557
|
|
|
0.860 |
GeneticVariation |
GWASCAT |
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
|
21685912 |
2011 |
|
rs242557
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Our results show that the H1-rs242557(G) allele sub-haplotype is increased in PD (p=0.005), while the H1-rs242557(A) allele sub-haplotype is increased in PSP/CBD (p=0.0002), comparing to controls.
|
19879020 |
2011 |
|
rs242557
|
|
|
0.860 |
GeneticVariation |
BEFREE |
However, one H1-specific SNP (rs242557) previously implicated in PSP did not alter the risk of PD, indicating that distinct H1 sub-haplotypes probably drive the associations with PD and PSP.
|
19912324 |
2010 |