rs669
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 9079672 |
| Gene | A2M, KLRG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs669 |
| dbSNP (classic) | rs669 |
| ClinGen | rs669 |
| ebi | rs669 |
| HLI | rs669 |
| Exac | rs669 |
| Gnomad | rs669 |
| Varsome | rs669 |
| LitVar | rs669 |
| Map | rs669 |
| PheGenI | rs669 |
| Biobank | rs669 |
| 1000 genomes | rs669 |
| hgdp | rs669 |
| ensembl | rs669 |
| geneview | rs669 |
| scholar | rs669 |
| rs669 | |
| pharmgkb | rs669 |
| gwascentral | rs669 |
| openSNP | rs669 |
| 23andMe | rs669 |
| SNPshot | rs669 |
| SNPdbe | rs669 |
| MSV3d | rs669 |
| GWAS Ctlg | rs669 |
| GMAF | 0.2649 |
| Max Magnitude | 2 |
| ? | (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]. However, the more recent 2014 meta-analysis suggests that there is not enough evidence for associations of A2M gene polymorphisms (5 bp I/D, Ile1000Val) with AD risk at present, even after stratification by ethnicity and APOE ε4 with genotypes of polymorphism sites.
[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 UniProtKB (protein) |
| CLNACC | RCV000019801.2, RCV000019802.2, |
[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
