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.
Department of Molecular Pathology, Medical University of Lodz, 8/10 Czechoslowacka str., 92-216 Lodz, Poland. golanska@wp.pl
Ewa
E
Golanska
Monika
M
Sieruta
Sylwia M
SM
Gresner
Krystyna
K
Hulas-Bigoszewska
Elizabeth H
EH
Corder
Maria
M
Styczynska
Beata
B
Peplonska
Maria
M
Barcikowska
Pawel P
PP
Liberski
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
C466684:APBB2 protein, human; D048868:Adaptor Proteins, Signal Transducing