Gene "GAB2"
Found 1 record
Gene information
Gene symbol:
GAB2
See related:
Ensembl: ENSG00000033327, Gene ID: 9846
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered onset time(1)  
Detail：
  • Variant 1:
    GAB2:c.376+1387C>T
    Gene:
    GAB2
    Genomic location:
    chr11:77990260
    dbSNP ID:
    rs4945261
    Target disease:
    Alzheimer's Disease(DOID_10652)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    OR=1.49, 95% CI: 1.04-2.15 
    Effect:
    Our data independently replicate an association between GAB2 and late-onset AD, which appears to be limited to APOE epsilon4 carriers.
    Reference:
    PMID18853460
    Title:
    Common variation in GRB-associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementia.
    Species studied:
    Human
    Abstract:
    GRB-associated binding protein 2 (GAB2) was recently reported to be a modifier of late-onset Alzheimer dementia (AD) risk in carriers of the APOE epsilon4 allele in a genome-wide association analysis. We aimed to investigate this association in a well-characterized Belgian late-onset AD patient/control group: 528 Belgian AD patients (mean onset age 79.0+/-5.2 years, 70.2% females) and 601 ethnically matched control individuals (mean age 61.9+/-15.3 years, 57.1% females) were genotyped for 10 SNPs across the GAB2 locus. For 2 SNPs the most common genotype was associated with risk for AD, with the most significant result for rs4945261 [OR 1.49 (95%CI 1.04-2.15)]. After stratification by presence or absence of APOE epsilon4 these associations were present in APOE epsilon4 carriers only. When assessing the effect of APOE and rs4945261 in one model, rs4945261 did not show a main effect, but the joint risk effect of rs4945261-GG and APOE epsilon4 on AD was significant (OR 3.87, 95%CI 2.66-5.63; p=1.0E-12), with a deviation of 1.87 from the multiplicative model of interaction. Haplotype analyses showed evidence of association in the total (global p(sim) 0.04) and APOE epsilon4+ (global p(sim) 0.02) but not in the APOE epsilon4 - group (global p(sim) 0.6). The association was driven by a higher frequency of the major haplotype in patients. Our data independently replicate an association between GAB2 and late-onset AD, which appears to be limited to APOE epsilon4 carriers.