Alzheimer's disease and apolipoprotein E genotype in Western Australia: an autopsy-verified series.
OBJECTIVE
To determine the relationship between the apolipoprotein E epsilon 4 allele and autopsy-verified Alzheimer's disease (AD) in an Australian population.


METHODS
Retrospective case-control study.


METHODS
Royal Perth Hospital, Perth, Western Australia (a tertiary referral hospital).


METHODS
50 subjects with "definite" AD (according to the histological and clinical criteria of the Consortium to Establish a Registry for Alzheimer's Disease [CERAD]) and 30 control subjects who had died from a non-neurological disease were randomly selected from the hospital's neuropathology register.


METHODS
Histological grading of brain sections stained with the modified Bielschowsky stain according to the criteria of CERAD; number (burden) of neuritic plaques; apolipoprotein E genotype (APOE).


RESULTS
Frequency of the epsilon 4 allele was significantly higher in the AD group (37%) than in the control group (2%) (chi 2 = 25.8; P < 0.00001). In the AD group, 50% of subjects were heterozygous for the epsilon 4 allele and 12% were homozygous, while in the control group one subject was heterozygous for the allele and none were homozygous. No association was seen between the epsilon 4 allele and neuritic plaque burden in the hippocampus, entorhinal cortex, middle frontal gyrus or inferior parietal lobule in subjects with AD.


CONCLUSIONS
Our findings confirm an association between the epsilon 4 allele and autopsy-verified AD. The epsilon 4 allele may be an important risk factor for susceptibility to AD in the general Australian population.
Fabian
V A
VA
Department of Neuropathology, Royal Perth Hospital, WA.
Jones
T M
TM
Wilton
S D
SD
Dench
J E
JE
Davis
M R
MR
Lim
L
L
Kakulas
B A
BA
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics*; D001921:Brain / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D011897:Random Allocation; D012189:Retrospective Studies; D012307:Risk Factors
D053327:Apolipoprotein E4; D001057:Apolipoproteins E