Background and purpose: An intronic polymorphism of presenilin-1 (PS-1), a gene responsible for early-onset familial Alzheimer's disease, has been reported to be associated with late-onset sporadic Alzheimer's disease. In a search for a genetic risk factor of sporadic cerebral amyloid angiopathy (CAA), we investigated the association of the polymorphism of PS-1 with CAA.
Methods: The association between the severity of CAA and genotypes of a polymorphism in intron 8 of PS-1 was investigated in 137 autopsy cases of the elderly.
Results: A significant decrease of PS-1 2/2 genotype frequency was associated with severe or moderate CAA.
Conclusions: Our results suggest that PS-1 intronic polymorphism may be associated with the severity of CAA in the elderly.