Muramatsu T, Matsushita S, Arai H, Sasaki H, Higuchi S
Department of Psychiatry, Kurihama National Hospital, Kanagawa, Japan.
J Neural Transm (Vienna). 1996;103(10):1205-10. doi: 10.1007/BF01271205.
alpha 1-Antichymotrypsin (ACT), a component of the senile plaque of the Alzheimer's disease (AD) brain, has a possible role as a molecular chaperone in developing AD pathology. This study was a search for the possible association of the two structural polymorphisms of ACT, Ala15-->Thr and Met389-->Val in the Japanese population. In 101 AD patients, genotype and allele frequencies of the two polymorphisms did not differ from those of 104 age-matched healthy controls. However, in those subjects in which the apolipoprotein epsilon 4 allele was absent, the frequency of the Ala15 homozygote was significantly higher in the AD patients than in controls. This suggests that the Ala15 homozygote state may be a susceptibility marker for AD, interacting with apolipoprotein E genotype.
α1-抗糜蛋白酶（ACT）是阿尔茨海默病（AD）大脑老年斑的一个组成部分，在AD病理学发展过程中可能作为分子伴侣发挥作用。本研究旨在探寻ACT的两种结构多态性，即Ala15→Thr和Met389→Val在日本人群中的可能关联。在101例AD患者中，这两种多态性的基因型和等位基因频率与104例年龄匹配的健康对照者并无差异。然而，在那些不存在载脂蛋白ε4等位基因的受试者中，AD患者中Ala15纯合子的频率显著高于对照组。这表明Ala15纯合子状态可能是AD的一个易感性标志物，与载脂蛋白E基因型相互作用。
