No association between alpha 1-antichymotrypsin and familial Alzheimer's disease.
Alzheimer's disease (AD) is the most common mid to late age-of-onset neurodegenerative disorder. AD has a strong and complex genetic etiology, and multiple genes, acting independently and/or interacting, likely affect the risk of developing AD. Several genes involved with AD already have been described, but only the APOE gene on chromosome 19q has been shown to affect the risk of the most common form of AD, occurring with onset over the age of 65. Because a substantial portion of late-onset AD is not explained by APOE, other genes affecting late-onset AD likely occur. These could act either independently or perhaps interact with APOE. alpha 1-Antichymotrypsin (ACT) is a major component of the amyloid plaques found in the brains of AD patients and may play a role in the pathophysiology of AD. It has been proposed that a specific polymorphism within the ACT gene interacts with APOE to increase the risk of developing AD. Our results do not confirm this finding.
Haines
J L
JL
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA.
Pritchard
M L
ML
Saunders
A M
AM
Schildkraut
J M
JM
Growdon
J H
JH
Gaskell
P C
PC
Farrer
L A
LA
Auerbach
S A
SA
Gusella
J F
JF
Locke
P A
PA
Rosi
B L
BL
Yamaoka
L
L
Small
G W
GW
Conneally
P M
PM
Roses
A D
AD
Pericak-Vance
M
M
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D005190:Family; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D008404:Massachusetts; D008875:Middle Aged; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D000514:alpha 1-Antichymotrypsin