Lin C, Wang S T, Wu C W, Chuo L J, Kuo Y M
Department of Physiology, China Medical College, Taichung, Taiwan.
Chin J Physiol. 2003 Sep 30;46(3):111-5.
A polymorphism in the cystatin C (CST3) gene was suggested to associate with Alzheimer's disease (AD). In the present study we attempted to determine the association between CST3 polymorphism and AD or vascular dementia (VD), and whether such effects are dependent of the APOE4 allele. The polymorphisms of CST3 genotype were determined using polymerase chain reactions (PCR) followed by gel electrophoresis in 124 AD, 70 VD, and 115 control individuals. No statistical difference in CST3B allele frequencies was observed among all three groups. Associations between CST3B/B genotype and AD patients older than 75-year-old, or VD patients younger than 75-year-old were evident. The APOE4 allele alone significantly increased the odds for the developing AD, but not VD. A logistic regression analysis revealed that either CST3 or its interaction with APOE4 were not significant predictors of AD. However, a synergistic association of CST3 and APOE4 alleles was observed in predicting VD patients. These results suggest that CST3 might interact with APOE4 on conferring vascular pathologies.
胱抑素C（CST3）基因的一种多态性被认为与阿尔茨海默病（AD）有关。在本研究中，我们试图确定CST3多态性与AD或血管性痴呆（VD）之间的关联，以及这种效应是否依赖于APOE4等位基因。采用聚合酶链反应（PCR）结合凝胶电泳法，对124例AD患者、70例VD患者和115例对照个体进行CST3基因型多态性检测。三组之间CST3B等位基因频率未观察到统计学差异。CST3B/B基因型与75岁以上的AD患者或75岁以下的VD患者之间存在明显关联。单独的APOE4等位基因显著增加了患AD的几率，但对VD无影响。逻辑回归分析显示，CST3及其与APOE4的相互作用均不是AD的显著预测因素。然而，在预测VD患者时，观察到CST3和APOE4等位基因之间存在协同关联。这些结果表明，CST3可能与APOE4在导致血管病变方面存在相互作用。
