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rs669

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 normal
(A;G) possibly increased risk for Alzheimers
(G;G) 2 3.8x or higher increased risk for Alzheimers
ReferenceGRCh38 38.1/141
Chromosome12
Position9079672
GeneA2M
is asnp
is mentioned by
dbSNPrs669
ebirs669
HLIrs669
Exacrs669
Varsomers669
Maprs669
PheGenIrs669
hapmaprs669
1000 genomesrs669
hgdprs669
ensemblrs669
gopubmedrs669
geneviewrs669
scholarrs669
googlers669
pharmgkbrs669
gwascentralrs669
openSNPrs669
23andMers669
23andMe allrs669
SNP Nexus

SNPshotrs669
SNPdbers669
MSV3drs669
GWAS Ctlgrs669
GMAF0.2649
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs669 is a SNP in the alpha-2-macroglobulin A2M gene. In dbSNP orientation, the rs669(A) allele encodes an isoleucine, and the rs669(G) allele encodes a valine; the SNP is also known as the Ile/Val variant.

On its own, rs669 was not seen to reproducibly and independently increase risk for Alzheimer's disease in several studies of ~200 Italian patients. However, the T-C-A haplotype of rs12316150-rs1050283-rs669 was associated with both early- and late-onset Alzheimer's disease. The majority of the disease risk from this haplotype was based on rs1050283.[PMID 18191876]

The original 2004 study of 148 Italian sporadic AD patients yielded an odds ratio for the rs669(G;G) genotype (as oriented in dbSNP orientation) of 3.81 (CI: 1.66-8.75). The presence of rs2333227(C;C), in addition to rs669(G;G), appears to synergistically increase the risk of AD to an odds ratio of 25.5 (CI: 4.65-139.75), regardless of ApoE status.[PMID 15023809]

OMIM103950
DescALPHA-2-MACROGLOBULIN POLYMORPHISM
Variant0001
Relatedalso


[PMID 21122033] Leukoaraiosis is associated with genes regulating blood-brain barrier homeostasis in ischaemic stroke patients


ClinVar
Risk rs669(G;G)
Alt rs669(G;G)
Reference rs669(A;A)
Significance Other
Disease ALPHA-2-MACROGLOBULIN POLYMORPHISM Alzheimer disease
Variation info
Gene A2M
CLNDBN ALPHA-2-MACROGLOBULIN POLYMORPHISM Alzheimer disease, susceptibility to
Reversed 1
HGVS NC_000012.11:g.9232268T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019801.2, RCV000019802.2,



GET Evidence
A2M-I1000V
aa_change Ile1000Val
aa_change_short I1000V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.319409
summary



[PMID 23186781] Association of polymorphisms in the LRP1 and A2M genes with Alzheimer's disease in the Northern Chinese Han population


[PMID 23238918] Genome-wide pathway analysis of a genome-wide association study on multiple sclerosis.


[PMID 24756728] Influence of Alpha-2-Macroglobulin 5 bp I/D and Ile1000Val Polymorphisms on the Susceptibility of Alzheimer's disease: A Systematic Review and Meta-analysis of 52 Studies