ASSOCIATION OF PRESENILIN-1 POLYMORPHISM WITH CEREBRAL AMYLOID ANGIOPATHY IN THE ELDERLY

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 d isease. In a search for a genetic risk factor of sporadic cerebral amy loid angiopathy (CAA), we investigated the association of the polymorp hism 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 investiga ted in 137 autopsy cases of the elderly. Results A significant decreas e of PS-1 2/2 genotype frequency was associated with severe or moderat e CAA. Conclusions Our results suggest that PS-1 intronic polymorphism may be associated with the severity of CAA in the elderly.