rs7101429
This is a intron variant variant in the GAB2 gene.
▶Research that mentions this SNP (1)
▶GAB2 as an Alzheimer Disease Susceptibility GeneAssociationN=4,007Brit-Maren M. Schjeide et al.(2009)· Archives of Neurology
This follow-up study of genomewide association findings tested 4 putative Alzheimer's disease susceptibility loci from prior GWA studies in 4,007 DNA samples from 1,299 families with AD. Only rs7101429 in GAB2 showed significant evidence of association (P = .002), with a protective effect (OR = 0.76, 95% CI 0.62-0.94). The other 3 loci (GOLM1, chromosome 15q, and chromosome 9p) did not show consistent evidence of association across the datasets.
About GAB2
This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
View all GAB2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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