Yamada M, Sodeyama N, Itoh Y, Suematsu N, Otomo E, Matsushita M, Mizusawa H
Department of Neurology, Tokyo Medical and Dental University, Japan.
Stroke. 1999 Nov;30(11):2277-9. doi: 10.1161/01.str.30.11.2277.
alpha(2)-Macroglobulin may be implicated in amyloid beta protein deposition. A deletion in the exon 18 splice acceptor of the alpha(2)-macroglobulin gene (A2M) has been reported to be associated with risk for Alzheimer's disease (AD). In search of genetic risk factors for cerebral amyloid angiopathy (CAA), we investigated association of the A2M deletion polymorphism with CAA.
The association between the severity of CAA and A2M deletion polymorphism was investigated in 178 autopsy cases of the elderly including 68 patients with AD.
There was no significant difference in the severity of CAA between individuals with the A2M deletion allele and those without in the AD, non-AD, or total cases. Status for the epsilon4 allele of the apolipoprotein E gene did not influence the results.
Our results suggest that the A2M deletion polymorphism may not be a definitive risk factor of CAA in the elderly, although further study with larger samples is necessary to confirm this.
α2-巨球蛋白可能与β淀粉样蛋白沉积有关。据报道，α2-巨球蛋白基因（A2M）外显子18剪接受体的一个缺失与阿尔茨海默病（AD）风险相关。为寻找脑淀粉样血管病（CAA）的遗传危险因素，我们研究了A2M缺失多态性与CAA的关联。
在178例老年尸检病例（包括68例AD患者）中，研究CAA严重程度与A2M缺失多态性之间的关联。
在AD患者、非AD患者或所有病例中，携带A2M缺失等位基因的个体与未携带该等位基因的个体之间，CAA严重程度无显著差异。载脂蛋白E基因ε4等位基因状态不影响结果。
我们的结果表明，A2M缺失多态性可能不是老年人CAA的决定性危险因素，尽管需要进一步进行更大样本量的研究来证实这一点。
