|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The major A allele in a SORL1 single nucleotide polymorphism (SNP), rs3824968, is associated with an increased AD risk.
|
26996954 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Variants of SORL1 previously associated with AD are also associated with MRI and neuropathological measures of neurodegenerative and cerebrovascular disease.
|
19064752 |
2008 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
|
23565137 |
2013 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The SORL1 gene encodes a protein involved in the amyloidogenic process, and its variants have been associated with Alzheimer's disease (AD) physiopathology.
|
29376855 |
2018 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The gene encoding sortilin receptor 1 (SORL1) has been associated with Alzheimer's disease risk.
|
23318115 |
2013 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We aimed to investigate the association between polymorphisms in several cholesterol-related genes [APOA5 (rs662799), APOC1 (rs11568822), APOD (rs1568565), CH25H (rs13500), LDLR (rs5930), SORL1 (rs2282649)] and AD in a cohort of Turkish patients.
|
30684189 |
2019 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Upregulated transcripts included those related to axon guidance, glutamatergic synapses and kinase activity and included AD-risk genes Sorl1 and Ptk2b.
|
28628896 |
2017 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The findings are supported by genetic linkage and association studies that have clearly identified several genes involved in cholesterol metabolism or transport as AD susceptibility genes, including apolipoprotein E, apolipoprotein J, and the sortilin-related receptor.
|
21965313 |
2012 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
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 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SORL1 variants across Alzheimer's disease European American cohorts.
|
27650968 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Defects in SORLA and its interacting adaptors result in transport defects and enhanced amyloidogenic processing of APP, and represent important risk factors for AD in patients.
|
23813966 |
2013 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Results from lipid metabolism arrays validated upregulation of several processes implicated in the biogenesis of β-amyloid and Alzheimer's disease (AD), including sterol o-acyltransferase 1/acetyl-coenzyme A acyltransferase 1 (SOAT1/ACAT1), sortilin-related receptor L1 (SORL1) and low-density lipoprotein receptor-related protein 12 (LRP12).
|
30390000 |
2018 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Among the eight tested SNPs, SORL1 rs1784933 was most significantly associated with AD and MCI in our population.
|
28034305 |
2016 |
|
Familial Alzheimer Disease (FAD)
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Lysosomal sorting of amyloid-β by the SORLA receptor is impaired by a familial Alzheimer's disease mutation.
|
24523320 |
2014 |
|
Familial Alzheimer Disease (FAD)
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene.
|
28595629 |
2017 |
|
Impaired cognition
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Sex moderates the effects of the Sorl1 gene rs2070045 polymorphism on cognitive impairment and disruption of the cingulum integrity in healthy elderly.
|
25598427 |
2015 |
|
Malignant neoplasm of breast
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Colorectal Carcinoma
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Triglycerides measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
|
Fasting blood glucose measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Variants in MTNR1B influence fasting glucose levels.
|
19060907 |
2009 |
|
Alzheimer Disease, Late Onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, several genetic studies have identified allelic and haplotypic SORL1 variants associated with late-onset AD, and these variants confer small to modest risk of AD.
|
18713574 |
2008 |