Have questions? Visit https://www.reddit.com/r/SNPedia

rs2373115

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0.1
(G;T) normal
(T;T) normal
ReferenceGRCh38 38.1/141
Chromosome11
Position78380104
GeneGAB2, PPIAP5
is asnp
is mentioned by
dbSNPrs2373115
ebirs2373115
HLIrs2373115
Exacrs2373115
Varsomers2373115
Maprs2373115
PheGenIrs2373115
hapmaprs2373115
1000 genomesrs2373115
hgdprs2373115
ensemblrs2373115
gopubmedrs2373115
geneviewrs2373115
scholarrs2373115
googlers2373115
pharmgkbrs2373115
gwascentralrs2373115
openSNPrs2373115
23andMers2373115
23andMe allrs2373115
SNP Nexus

SNPshotrs2373115
SNPdbers2373115
MSV3drs2373115
GWAS Ctlgrs2373115
GMAF0.292
Max Magnitude0.1
? (G;G) (G;T) (T;T) 28
Conflicting reports of possible small increase in Alzheimer's risk. Currently dubious at best.

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 17553421OA-icon.png]

[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 17553421OA-icon.png] (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.

GWAS
SNP rs2373115
PubMedID [PMID 17553421OA-icon.png]
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


OMIM104300
DescALZHEIMER DISEASE; AD
Variant
Relatedalso
OMIM606203
DescGRB2-ASSOCIATED BINDING PROTEIN 2; GAB2
Variant
Relatedalso



[PMID 21285854] Association Study of the GAB2 Gene With the Risk of Alzheimer Disease in the Chinese Population


[PMID 19204163OA-icon.png] GAB2 as an Alzheimer disease susceptibility gene: follow-up of genomewide association results.


[PMID 19924507] GAB2 is not associated with late-onset Alzheimer's disease in Chinese Han.


[PMID 20061627OA-icon.png] Genome-wide scan of copy number variation in late-onset Alzheimer's disease.


[PMID 20188796] Association analysis between polymorphism rs2373115 of gene GRB-associated binding protein 2 and Mongolian Alzheimer patients.


[PMID 20574532OA-icon.png] Intermediate phenotypes identify divergent pathways to Alzheimer's disease.


GET Evidence
rs2373115
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.1875
summary



[PMID 24161894] GAB2 polymorphism rs2373115 confers susceptibility to sporadic Alzheimer's disease


[PMID 23525328OA-icon.png] Single-nucleotide polymorphisms of GSK3B, GAB2 and SORL1 in late-onset Alzheimer's disease: interactions with the APOE genotype


[PMID 26611835] Meta-analysis of the Association between Alzheimer Disease and Variants in GAB2, PICALM, and SORL1.