意大利散发性晚发型阿尔茨海默病老年患者组织蛋白酶D基因多态性
Cathepsin D polymorphism in Italian elderly subjects with sporadic late-onset Alzheimer's disease.
作者信息
Ingegni Tiziana, Nocentini Giuseppe, Mariani Elena, Spazzafumo Liana, Polidori M Cristina, Cherubini Antonio, Catani Marco, Cadini Donatella, Senin Umberto, Mecocci Patrizia
机构信息
Department of Gerontology and Geriatrics, University of Perugia School of Medicine, Perugia, Italy.
出版信息
Dement Geriatr Cogn Disord. 2003;16(3):151-5. doi: 10.1159/000071003.
Alzheimer's disease (AD) is the most frequent cause of dementia in elderly people. Different pathological pathways have been involved in the development of late-onset AD. Among them, numerous genes have been proposed as pathogenetic factors acting independently or interactively. It has been suggested that the cathepsin D gene (CTSD) is associated with late-onset AD. We analyzed an exonic polymorphism of the CTSD gene [C-->T (Ala-->Val) transition at position 224] in 142 AD patients and 120 controls. Our data indicate no significant association between this polymorphism and the risk of AD. Likewise there was no association between CTSD polymorphism and the apolipoprotein E genotype in the risk of developing AD.
阿尔茨海默病（AD）是老年人痴呆最常见的病因。不同的病理途径参与了晚发型AD的发病过程。其中，许多基因已被提出作为独立或相互作用的致病因素。有人提出组织蛋白酶D基因（CTSD）与晚发型AD有关。我们分析了142例AD患者和120例对照中CTSD基因的一个外显子多态性[224位C→T（丙氨酸→缬氨酸）转换]。我们的数据表明该多态性与AD风险之间无显著关联。同样，CTSD多态性与载脂蛋白E基因型在AD发病风险中也无关联。
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