Analysis of APBB2 gene polymorphisms in sporadic Alzheimer's disease

The accumulation of beta-amyloid (Abeta) in the brain plays a central role in the pathogenesis of Alzheimer's disease (AD). The processing of Abeta precursor protein to Abeta is modulated by binding proteins including APBB2 [amyloid beta precursor protein-binding family B member 2, FE65-like, FE65L1]. We investigated two intronic SNPs within the APBB2 gene: rs13133980 and hCV1558625 (rs17443013), among Polish AD patients and healthy controls (n=213, 171). The frequencies of rs13133980 alleles and genotypes did not differ between cases and controls, irrespective of age of onset or APOE epsilon4 carrier status. The hCV1558625 G allele was over-represented in patients with onset under age 70 compared to controls in the same age range (57% vs. 43%, p=0.03). The association between the hCV1558625 G allele and susceptibility for AD at relatively young ages needs to be confirmed in other samples.