|
rs641120
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In this study, we investigated the associations between single-nucleotide polymorphisms in GAB2 (rs2373115), GSK3B (rs6438552) and SORL1 (rs641120) and Alzheimer's disease (AD), both alone and in combination with the APOE*4 allele.
|
23525328 |
2013 |
|
rs641120
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Ninety six outpatients with LOAD and 120 unrelated controls were genotyped for APOE and three SNPs at the 5' end of SORL1(intron 6): SNP 8 (rs668387); SNP 9 (rs68902); SNP 10 (rs641120).
|
23463934 |
2013 |
|
rs2282649
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Significant associations between CSF Aβ(1-42) levels and the SORL1 SNPs 23 (rs3824968) and 24 (rs2282649) were detected in the AD group.
|
21997402 |
2011 |
|
rs3824968
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Significant associations between CSF Aβ(1-42) levels and the SORL1 SNPs 23 (rs3824968) and 24 (rs2282649) were detected in the AD group.
|
21997402 |
2011 |
|
rs1010159
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We conducted a study of 7 single nucleotide polymorphisms (SNPs), rs668387, rs689021, rs641120, rs1699102, rs3824968, rs2282649, and rs1010159, in the SORL1 gene that were associated to AD in previous studies.
|
19584446 |
2009 |
|
rs1010159
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In the present study we investigated the association of SORL1 gene variants (rs2070045 (SNP19), SORL1-18ex26 (SNP21), rs3824968 (SNP23), rs1010159 (SNP25)) with AD risk by using Cox proportional hazard model and Kaplan-Meier survival analysis in 349 AD patients and 483 controls, recruited from a multicenter study of the German Competence Network Dementias.
|
19368828 |
2009 |
|
rs2282649
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We conducted haloptype analysis involving two genetic clusters of SORL1 in AD and controls among Han Chinese. rs3824968 (SNP 23) was associated with an increased risk of AD, and there was a trend towards association for rs1699102 (SNP 22) and rs2282649 (SNP 24).
|
18063222 |
2009 |
|
rs3824968
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In the present study we investigated the association of SORL1 gene variants (rs2070045 (SNP19), SORL1-18ex26 (SNP21), rs3824968 (SNP23), rs1010159 (SNP25)) with AD risk by using Cox proportional hazard model and Kaplan-Meier survival analysis in 349 AD patients and 483 controls, recruited from a multicenter study of the German Competence Network Dementias.
|
19368828 |
2009 |
|
rs3824968
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We conducted haloptype analysis involving two genetic clusters of SORL1 in AD and controls among Han Chinese. rs3824968 (SNP 23) was associated with an increased risk of AD, and there was a trend towards association for rs1699102 (SNP 22) and rs2282649 (SNP 24).
|
18063222 |
2009 |
|
rs668387
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The SNP of rs3851179 (PICALM), rs12285364 (SORL1), rs2070045 (SORL1), and rs2282649 (SORL1) was associated with an increased risk of AD, whereas SORL1 rs1010159, rs641120, rs668387, and rs689021 were associated with a decreased risk of AD.
|
26611835 |
2016 |
|
rs668387
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Ninety six outpatients with LOAD and 120 unrelated controls were genotyped for APOE and three SNPs at the 5' end of SORL1(intron 6): SNP 8 (rs668387); SNP 9 (rs68902); SNP 10 (rs641120).
|
23463934 |
2013 |
|
rs668387
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We conducted a study of 7 single nucleotide polymorphisms (SNPs), rs668387, rs689021, rs641120, rs1699102, rs3824968, rs2282649, and rs1010159, in the SORL1 gene that were associated to AD in previous studies.
|
19584446 |
2009 |
|
rs1133174
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The aim of the present study was to validate the association of the five AD-associated variants, 8-oxoguanine DNA glycosylase 1 (<i>OGG1</i>) rs1052133, bridging integrator 1 rs744373, sortilin-related receptor 1, rs1133174, presenilin 2 rs8383, and nerve growth factor rs6330, in the Xinjiang Chinese population.
|
30214536 |
2018 |
|
rs2298813
|
|
|
0.020 |
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 |
|
rs689021
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Analysis showed, (i) Increased risk between the single nucleotidepolymorphisms (rs641120, rs1010159) and Alzheimer's disease susceptibility inAsian populations, (ii) Single nucleotide polymorphism rs689021 was associatedwith decreased risk in Caucasians, and (iii) Single nucleotide polymorphismrs641120 was detected as a decreased risk in both populations.
|
29036834 |
2018 |
|
rs2298813
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The nonsynonymous SNP rs2298813 was also related to a lower disease risk when AD and MCI were combined as a group (OR = 0.76, p = 0.035).
|
28034305 |
2016 |
|
rs689021
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The SNP of rs3851179 (PICALM), rs12285364 (SORL1), rs2070045 (SORL1), and rs2282649 (SORL1) was associated with an increased risk of AD, whereas SORL1 rs1010159, rs641120, rs668387, and rs689021 were associated with a decreased risk of AD.
|
26611835 |
2016 |
|
rs1133174
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A nominally significant association of SNP rs1133174 with AD (p = 0.051) was also observed in the whole cohort.
|
24938503 |
2014 |
|
rs1699102
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our studies identified a SORL1 haplotype in the 3' gene region consisting of single-nucleotide polymorphisms rs1699102 and rs2070045 that is associated with poor receptor expression in the brain of patients with Alzheimer disease.
|
22410445 |
2012 |
|
rs1699102
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We conducted haloptype analysis involving two genetic clusters of SORL1 in AD and controls among Han Chinese. rs3824968 (SNP 23) was associated with an increased risk of AD, and there was a trend towards association for rs1699102 (SNP 22) and rs2282649 (SNP 24).
|
18063222 |
2009 |
|
rs781023219
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To identify AD causative variants, we performed whole-exome sequencing on five individuals from a family with EOAD and a missense variant, p.Arg1303Cys (c.3907C > T) was identified in SORL1 which segregated with disease and was further characterized with immunohistochemistry on two post mortem autopsy cases from the same family.
|
28595629 |
2017 |
|
rs12285364
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNP of rs3851179 (PICALM), rs12285364 (SORL1), rs2070045 (SORL1), and rs2282649 (SORL1) was associated with an increased risk of AD, whereas SORL1 rs1010159, rs641120, rs668387, and rs689021 were associated with a decreased risk of AD.
|
26611835 |
2016 |
|
rs1784933
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among the eight tested SNPs, SORL1 rs1784933 was most significantly associated with AD and MCI in our population.
|
28034305 |
2016 |
|
rs985421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings suggest that the SORL1 SNP rs985421 may alter the risk for sporadic AD and aMCI in the Han Chinese population.
|
24486888 |
2014 |