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rs6583817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 1 ~0.80x (lower) risk for late onset Alzheimer's disease
(T;T) 1 ~0.80x (lower) risk for late onset Alzheimer's disease
ReferenceGRCh38 38.1/142
Chromosome10
Position92487490
GeneIDE
is asnp
is mentioned by
dbSNPrs6583817
ebirs6583817
HLIrs6583817
Exacrs6583817
Varsomers6583817
Maprs6583817
PheGenIrs6583817
hapmaprs6583817
1000 genomesrs6583817
hgdprs6583817
ensemblrs6583817
gopubmedrs6583817
geneviewrs6583817
scholarrs6583817
googlers6583817
pharmgkbrs6583817
gwascentralrs6583817
openSNPrs6583817
23andMers6583817
23andMe allrs6583817
SNP Nexus

SNPshotrs6583817
SNPdbers6583817
MSV3drs6583817
GWAS Ctlgrs6583817
GMAF0.1873
Max Magnitude1
? (C;C) (C;T) (T;T) 28
rs6583817, also known as v311, is a SNP within an intron of the IDE gene, which encodes the insulin-degrading enzyme.

Late onset Alzheimer's disease is a neurodegenerative condition in which the brain develops large numbers of extracellular senile plaques composed primarily of aggregated amyloid-B proteins as well as intraneuronal neurofibrillary tangles composed mainly of aggregated tau protein.[PMID 15450169] One notable function of insulin-degrading enzyme is its ability to degrade amyloid-B and therefore to influence the amount of amyloid-B found in the brain.[PMID 12634421OA-icon.png]

A study of ~3,000 patients (and an equal number of matched controls) found that carriers of one or two minor alleles, i.e. rs6583817(T), had ~2x higher levels of insulin-degrading enzyme (p < 10e-8), lower levels of amyloid-B, and a (slightly) lower risk of Alzheimer's disease, with an odds ratio of around 0.80 (p < 0.03), depending on the population studied. rs6583817 is thought to be a functional variant based on in vitro studies.[PMID 20098734OA-icon.png]

While rs6583817 may be a functional variant, it is nearly perfectly linked to nearby SNP rs7910977, which is more commonly found on Illumina microarrays. The rs7910977(T) allele was also shown to correlate with decreased amyloid-B levels (presumably due to linkage with rs6583817), and it can be used to predict the presence of a rs6583817(T) allele.[PMID 20098734OA-icon.png]


[PMID 21731745OA-icon.png] Multiple Insulin Degrading Enzyme Variants Alter In Vitro Reporter Gene Expression


[PMID 23597493OA-icon.png] IDE (rs6583817) polymorphism and type 2 diabetes differentially modify executive function in older adults