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Alzheimer's disease and apolipoprotein E genotype in Western Australia: An autopsy-verified series

Fabian, V.A., Jones, T.M., Wilton, S.D., Dench, J.E., Davis, M.R., Lim, L. and Kakulas, B.A. (1996) Alzheimer's disease and apolipoprotein E genotype in Western Australia: An autopsy-verified series. Medical Journal of Australia, 165 (2). pp. 77-80.


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

DESIGN: Retrospective case-control study.

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

SUBJECTS: 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.

OUTCOME MEASURES: 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.

Item Type: Journal Article
Publisher: Australasian Medical Publishing Company
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