K. Morgan et al., MICROSATELLITE POLYMORPHISM OF THE ALPHA(1)-ANTICHYMOTRYPSIN GENE LOCUS ASSOCIATED WITH SPORADIC ALZHEIMERS-DISEASE, Human genetics, 99(1), 1997, pp. 27-31
A variant of the apolipoprotein E gene, APOE4, is associated with bot
h sporadic Alzheimer's disease (AD) and a subset of familial AD and th
is association is stronger with early as opposed to late onset AD. Bot
h APOE4 and al-antichymotrypsin (ACT) will accelerate the rate of amy
loid filament formation and are major constituents of the plaques asso
ciated with AD. We now show that a dinucleotide microsatellite allele
in the 5'-flanking sequence of the ACT gene, designated A10, in associ
ation with APOE4 significantly increases the risk of developing spora
dic AD, which accounts for the majority of AD cases.