Association of presenilin-1 polymorphism with cerebral amyloid angiopathy in the elderly.
OBJECTIVE
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.
Yamada
M
M
Department of Neurology, Tokyo Medical and Dental University, Japan. m-yamada.nuro@med.tmd.ac.jp
Sodeyama
N
N
Itoh
Y
Y
Suematsu
N
N
Otomo
E
E
Matsushita
M
M
Mizusawa
H
H
D000368:Aged; D000369:Aged, 80 and over; D000375:Aging / Q000502:physiology*; D016657:Cerebral Amyloid Angiopathy / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D053764:Presenilin-1
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1