Effects of Apolipoprotein E Genotype on Cortical Neuropathology in Senile Dementia of the Lewy Body and Alzheimer's Disease

Benjamin R., Leake A., Ince P.G., Perry R.H., McKeith I.G., Edwardson J.A., Morris C.M.
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引用次数: 44

Abstract

Apolipoprotein E (APO E) genotypes were determined in a UK population of neuropathologically confirmed control cases, and in cases of Lewy body dementia (SDLT) and late onset Alzheimer's disease (AD). APO E ϵ4 allele frequency was significantly elevated in both SDLT and AD groups with a concomitant reduction in the APO E ϵ3 allele frequency. The ϵ2 allele frequency in the AD group was only 25% of the control population, though because of the relatively small sample size this reduction was not significant; the ϵ2 allele frequency in the SDLT group was normal. No significant association was found between senile plaque density and neurofibrillary tangle density in the neocortex and APO E allele dose in either SDLT or AD. Although the possession of APO E ϵ4 is associated with an increased risk of developing SDLT and AD, actual APO E genotype does not appear to affect the burden of pathology.

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载脂蛋白E基因型对老年路易体痴呆和阿尔茨海默病皮质神经病理的影响
载脂蛋白E (APO E)基因型在英国神经病理学证实的对照病例、路易体痴呆(SDLT)和晚发性阿尔茨海默病(AD)病例中进行了检测。APO E ϵ4等位基因频率在SDLT和AD组均显著升高,同时APO E ϵ3等位基因频率降低。AD组的ϵ2等位基因频率仅为对照人群的25%,尽管由于样本量相对较小,这种降低并不显著;SDLT组ϵ2等位基因频率正常。在SDLT或AD患者中,老年斑密度和新皮层神经原纤维缠结密度与APO E等位基因剂量之间均未发现显著关联。虽然拥有APO E ϵ4与SDLT和AD的风险增加有关,但实际的APO E基因型似乎并不影响病理负担。
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