|
Mild cognitive disorder
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we investigated the association of genetic polymorphisms of five genes (8-oxoguanine DNA glycosylase 1 (OGG1), bridging integrator 1 (BIN1), sortilin-related receptor 1 (SORL1), presenilin 2 (PSEN2) and nerve growth factor (NGF)) with MCI risk in a Xinjiang Uygur population.
|
30983028 |
2019 |
|
Mild cognitive disorder
|
0.380 |
Biomarker
|
disease |
CTD_human |
To evaluate cognitive performance and presence of polymorphisms of the genes SORL1(rs11218304), PVRL2(rs6859), CR1(rs6656401), TOMM40(rs2075650), APOE (isoforms ɛ2, ɛ3, ɛ4), PICALM(rs3851179), GWAS_14q(rs11622883), BIN1(rs744373), and CLU (rs227959 and rs11136000) in patients with MCI and healthy individuals.
|
30503753 |
2018 |
|
Mild cognitive disorder
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Among the eight tested SNPs, SORL1 rs1784933 was most significantly associated with AD and MCI in our population.
|
28034305 |
2016 |
|
Mild cognitive disorder
|
0.380 |
Biomarker
|
disease |
BEFREE |
Taken together, these findings confirm that SORL1 is associated with AD and might be a potential tool for identifying MCI subjects at high risk of conversion to AD.
|
25881907 |
2015 |
|
Mild cognitive disorder
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
SORL1 genetic variants modulate risk of amnestic mild cognitive impairment in northern Han Chinese.
|
24083537 |
2014 |
|
Mild cognitive disorder
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Four independent samples were analyzed to determine effects of SORL1 genetic risk variants across the lifespan at multiple phenotypic levels: (1) microstructural integrity of white matter using diffusion tensor imaging in two healthy control samples (n=118, age 18-86; n=68, age 8-40); (2) gene expression using the Braincloud postmortem healthy control sample (n=269, age 0-92) and (3) Alzheimer's neuropathology (amyloid plaques and tau tangles) using a postmortem sample of healthy, mild cognitive impairment (MCI) and Alzheimer's individuals (n=710, age 66-108).
|
24166411 |
2014 |
|
Mild cognitive disorder
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have identified that single nucleotide polymorphisms (SNPs) in the sortilin-related receptor, L (DLR class) A repeats containing (SORL1) gene are associated with AD or amnestic mild cognitive impairment (aMCI) patients.
|
24486888 |
2014 |
|
Mild cognitive disorder
|
0.380 |
Biomarker
|
disease |
BEFREE |
To unveil differences in CSF concentrations of Aβ42, sAβPPα, sAβPPβ, tTau, and SORL1 between patients with mild cognitive impairment (MCI) who were categorized according to expert interpretation of FDG scans.
|
23609762 |
2013 |
|
Mild cognitive disorder
|
0.380 |
Biomarker
|
disease |
BEFREE |
The homozygous CC-allele of single nucleotide polymorphism (SNP) 4 was associated with increased Tau concentrations in AD, and the minor alleles of SNP8, SNP9, and SNP10 and the haplotype CGT of these SNPs were associated with increased SORL1 concentrations in MCI.
|
22286501 |
2012 |