尸检证实的血管性痴呆亚型的遗传关联。
Genetic associations of autopsy-confirmed vascular dementia subtypes.
机构信息
Wolfson CARD, King's College London, London, UK.
出版信息
Dement Geriatr Cogn Disord. 2011;31(4):247-53. doi: 10.1159/000327171. Epub 2011 Apr 7.
BACKGROUND/AIMS: Genetic risk factors have not been clearly established for vascular dementias (VaD) related to stroke and cerebrovascular disease.
METHODS
Samples were genotyped for APOE, MTHFR and ICAM. Aβ levels and choline acetyltransferase (ChAT) activities were assayed in controls and individuals with VaD.
RESULTS
Associations were found between the APOE-ε4 allele and mixed dementia, infarct/stroke dementia and subcortical ischemic vascular dementia (SIVD), and higher Aβ1-42 levels and decreased ChAT activity. MTHFR was more associated with SIVD, mixed dementia, and lower ChAT activity.
CONCLUSIONS
The study demonstrates important differences in the genetic associations of VaD and begins to clarify the genetic basis of key pathological substrates.
背景/目的： 与中风和脑血管疾病相关的血管性痴呆（VaD）的遗传风险因素尚未明确。
方法
对 APOE、MTHFR 和 ICAM 进行基因分型。在对照组和 VaD 患者中检测 Aβ 水平和胆碱乙酰转移酶（ChAT）活性。
结果
发现 APOE-ε4 等位基因与混合性痴呆、梗死/中风性痴呆和皮质下缺血性血管性痴呆（SIVD）有关，且 Aβ1-42 水平升高，ChAT 活性降低。MTHFR 与 SIVD、混合性痴呆和 ChAT 活性降低的相关性更高。
结论
该研究表明 VaD 的遗传相关性存在重要差异，并开始阐明关键病理底物的遗传基础。
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