Rs2373115
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs2373115 |
| hapmap | rs2373115 |
| hgdp | rs2373115 |
| ensembl | rs2373115 |
| gopubmed | rs2373115 |
| scholar | rs2373115 |
| rs2373115 | |
| pharmgkb | rs2373115 |
| hgvbaseg2p | rs2373115 |
| medrefsnp | rs2373115 |
| 23andMe | rs2373115 |
| SNP Nexus |
| Gene | GAB2 |
| Chromosome | 11 |
| Orientation | minus |
| Position | 77768797 |
| Genotype | Effect |
|---|---|
| rs2373115(G;G) | |
| rs2373115(G;T) | normal |
| rs2373115(T;T) | normal |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs2373115(G;G) | 0.10.1 | |
| Rs2373115(G;T) | normal | |
| Rs2373115(T;T) | normal |
rs2373115 is one of several SNPs in the GAB2 gene indicating an increased risk (OR 4.1) of late-onset Alzheimer's disease, but apparently only in individuals also carrying ApoE4 alleles, i.e. rs429358(C) alleles [PMID 17553421]
[PMID 19262956] rs2373115 marker does not modify the risk of Alzheimer's disease in Spanish APOE e4 carriers.
rs2373115(G) is the risk allele.
[PMID 17553421] (p = 9 x 10(-11)) was associated with an odds ratio of 4.06 (confidence interval 2.81-14.69)
However, a separate study of 1,749 Alzheimer patients concluded that this GAB2 SNP is "at best a minor genetic determinant" since the authors of this study observed only a slight tendency for an increase of the (G;G) genotype (odds ratio of 1.3 vs (G;T) and (T;T), CI:1.0-1.6, p=0.09) and for an increase in the G allele frequency (odds ratio 1.3, CI:1.0-1.6, p=0.05) in ApoE4-carriers.[PMID 18272374]
[PMID 19118819] A new (Dec 2008) meta-analysis concludes that, yes, indeed, rs2373115 is associated with increased risk for Alzheimer's disease among ApoE4 carriers, with an odds ratio of 1.58 (CI: 1.17 - 2.14, p = 3 x 10e-3), but only among carriers. This meta-analysis pooled published studies with a new study of 443 AD cases.
[PMID 19276544] A study of 579 Italian Alzheimer's patients saw this association, but only in ApoE4 non-carriers, suggesting it might be an independent risk factor for the disease.
| ? | (G;G) (G;T) (T;T) |
|---|---|
|
| |
| GWAS | |
|---|---|
| SNP | rs2373115 |
| PubMedID | [PMID 17553421] |
| Condition | APOE*e4 carriers with late onset Alzheimer's disease |
| Gene | GAB2 |
| Risk Allele | G |
| pValue | 1.00E-010 |
| OR | 4.06 |
| 95% CI | 2.81-14.69 |
| PharmGKB | PA162356629 |
| Name | |
| Annotation | GWAS Results: GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers (Initial Sample Size: 446 cases, 290 controls; Replication Sample Size: 415 cases, 260 controls; Risk Allele: rs2373115-G). |
| Gene | GAB2 |
| Featue | |
| Evidence | PubMed ID:17553421; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Alzheimer Disease |
| Curation Level | Non-Curated |