Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease
Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease
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DOI：
10.1016/s0304-3940(02)00547-5
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发表时间：
2002-08-16
影响因子：
2.5
通讯作者：
Sorbi, S
中科院分区：
文献类型：
--
作者：
Bagnoli, S;Nacmias, B;Sorbi, S
最近的一项研究表明，组织蛋白酶 D (catD) 基因的遗传变异是患阿尔茨海默病 (AD) 的主要危险因素。 CatD 是一种参与神经变性的细胞内天冬氨酰蛋白酶。 224位的C→T（Ala→Val）转换与细胞内成熟的改变有关。最近，据报道，与对照组相比，AD 患者的 catD 基因 T 等位基因显着过高。不过，这一发现尚未得到证实。我们分析了意大利散发性和家族性 AD (FAD) 患者的 catD 和载脂蛋白 E 多态性分布。我们的研究表明，catD 多态性的分布在 AD 和 FAD 患者和对照组中没有差异。因此，我们的数据不支持 catD 基因作为 AD 发展中遗传风险因素的作用。 (C) 2002 Elsevier Science Ireland Ltd. 保留所有权利。
A recent study has shown that a genetic variation in the Cathepsin D (catD) gene is a major risk factor for the development of Alzheimer's disease (AD). CatD is an intracellular aspartyl protease involved in neurodegeneration. A C --> T (Ala --> Val) transition at position 224 has been associated with altered intracellular maturation. Recently, a significant overrepresentation of the T allele of the catD gene in AD patients compared with controls was reported. However, this finding has not yet been confirmed. We analyzed the distribution of catD and apolipoprotein E polymorphisms in Italian patients with sporadic and familial AD (FAD). Our studies revealed that the distribution of catD polymorphism did not differ in AD and FAD patients and controls. Thus, our data do not support a role for the catD gene as a genetic risk factor in the development of AD. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.