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rs11136000

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 1.5 0.84x decreased risk for Alzheimer's disease
(T;T) 1.5 0.84x decreased risk for Alzheimer's disease
ReferenceGRCh38 38.1/141
Chromosome8
Position27607002
GeneCLU
is asnp
is mentioned by
dbSNPrs11136000
ebirs11136000
HLIrs11136000
Exacrs11136000
Varsomers11136000
Maprs11136000
PheGenIrs11136000
hapmaprs11136000
1000 genomesrs11136000
hgdprs11136000
ensemblrs11136000
gopubmedrs11136000
geneviewrs11136000
scholarrs11136000
googlers11136000
pharmgkbrs11136000
gwascentralrs11136000
openSNPrs11136000
23andMers11136000
23andMe allrs11136000
SNP Nexus

SNPshotrs11136000
SNPdbers11136000
MSV3drs11136000
GWAS Ctlgrs11136000
GMAF0.3848
Max Magnitude1.5
? (C;C) (C;T) (T;T) 28
rs11136000 is a SNP associated with the clusterin CLU gene, which has also been known as the APOJ gene.

A study of over 5,000 Alzheimer's disease patients (and over 10,000 controls) found a slight protective effect of the (T) allele of this SNP. rs11136000(T) carriers had a slightly decreased risk for Alzheimer's disease, with an odds ratio of 0.84 (CI: 0.8-0.9, p=1.4x10e-9).10.1038/ng.440[PMID 20554627OA-icon.png] The association of this SNP and late-onset Alzheimer's disease was replicated over a total of another 1829 cases (and 2576 controls).

[PMID 21543606OA-icon.png] A MRI study of ~400 young (average age: 23) healthy carriers of rs11136000(C) alleles found a distinct profile of lower white matter integrity in these individuals that may increase their vulnerability to developing Alzheimer's later in life. To put it another way, 50 years before the actual development of Alzheimer's, most of us - after all, the (C) allele is the common one - apparently show some evidence of weakness in myelin, the protective covering around the neuron’s axons in the brain, (slightly) predisposing us to late-onset Alzheimer’s, at least compared to carriers of one or two (T) alleles.

GWAS snp
PMID [PMID 19734902OA-icon.png]
Trait Alzheimer's disease
Title Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Risk Allele
P-val 9E-10
Odds Ratio 1.16 [1.11-1.22]


[PMID 19734903] Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease


[PMID 20697030OA-icon.png] Meta-analysis Confirms CR1, CLU, and PICALM as Alzheimer Disease Risk Loci and Reveals Interactions With APOE Genotypes


[PMID 21321396OA-icon.png] Replication of BIN1 Association with Alzheimer's Disease and Evaluation of Genetic Interactions

OMIM104300
Desc
Variant
Relatedalso
[PMID 21912625OA-icon.png] An exploratory study on CLU, CR1 and PICALM and Parkinson disease


[PMID 22248099OA-icon.png] Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk


[PMID 22122982] Association of clusterin gene polymorphisms with late-onset Alzheimer's disease


[PMID 22722634OA-icon.png] Novel late-onset Alzheimer disease loci variants associate with brain gene expression.


[PMID 18806885OA-icon.png] Genetic analysis of the clusterin gene in pseudoexfoliation syndrome.


[PMID 20209083OA-icon.png] Genetic variability in CLU and its association with Alzheimer's disease.


[PMID 20599866] Implication of CLU gene polymorphisms in Chinese patients with Alzheimer's disease.


[PMID 20738160] Association analysis between the rs11136000 single nucleotide polymorphism in clusterin gene, rs3851179 single nucleotide polymorphism in clathrin assembly lymphoid myeloid protein gene and the patients with schizophrenia in the Chinese population.


[PMID 20739100OA-icon.png] Genetic variations in the CLU and PICALM genes are associated with cognitive function in the oldest old.


[PMID 21347408OA-icon.png] Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease.


[PMID 21358043] PICALM and CR1 variants are not associated with sporadic Alzheimer's disease in Chinese patients.


[PMID 21379329OA-icon.png] Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.


[PMID 21390209OA-icon.png] Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease.


[PMID 21391232OA-icon.png] CR1 is associated with amyloid plaque burden and age-related cognitive decline.


[PMID 21397462] Neural hyperactivation in carriers of the Alzheimer's risk variant on the clusterin gene.


[PMID 21422520] Association of the Alzheimer's disease clusterin risk allele with plasma clusterin concentration.


[PMID 21726919] CR1 genotype is associated with entorhinal cortex volume in young healthy adults.


[PMID 22015308] Polymorphisms of CR1, CLU and PICALM confer susceptibility of Alzheimer's disease in a southern Chinese population.


GET Evidence
rs11136000
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.523438
summary



[PMID 22402018] Implication of common and disease specific variants in CLU, CR1, and PICALM


[PMID 23419238OA-icon.png] Allele-specific polymerase chain reaction for the detection of Alzheimer's disease-related single nucleotide polymorphisms


[PMID 23650005] Lack of association of CR1, PICALM and CLU gene polymorphisms with Alzheimer disease in a Polish population


[PMID 24117116] Plasma Clusterin Levels and the rs11136000 Genotype in Individuals with Mild Cognitive Impairment and Alzheimer's Disease


[PMID 22005930OA-icon.png] Genome-wide association study of Alzheimer's disease with psychotic symptoms.


[PMID 22795969OA-icon.png] Alzheimer risk variant CLU and brain function during aging.


[PMID 25051234OA-icon.png] Intracellular Clusterin Interacts with Brain Isoforms of the Bridging Integrator 1 and with the Microtubule-Associated Protein Tau in Alzheimer's Disease


[PMID 25189118] Late-onset Alzheimer's risk variants in memory decline, incident mild cognitive impairment, and Alzheimer's disease


[PMID 25633098] CLU rs9331888 Polymorphism Contributes to Alzheimer's Disease Susceptibility in Caucasian But Not East Asian Populations


[PMID 26434199] LACK OF ASSOCIATIONS BETWEEN CLU AND PICALM GENE POLYMORPHISMS AND ALZHEIMER'S DISEASE IN A TURKISH POPULATION


[PMID 24958191] Clusterin variants are not associated with southern Chinese patients with Alzheimer's disease


[PMID 27076484] The Association Between Clusterin and APOE Polymorphisms and Late-Onset Alzheimer Disease in a Turkish Cohort