遗传 ›› 2005, Vol. 27 ›› Issue (2): 190-194.

• 研究报告 • 上一篇    下一篇

组织蛋白酶D基因C224T多态与散发阿尔茨海默氏病的关联研究

孙 岩1; *;施佳军1; 2; *;张思仲1;唐牟尼2;韩海英2;郭扬波2;马 崔2;刘协和3;李 涛3SUN Yan 1;* ; SHI Jia-Jun 1; 2;*; ZHANG Si-Zhong 1 ; TANG Mu-Ni 2; HAN Hai-Ying 2; GUO Yang-Bo 2; MA Cui 2; LIU Xie-He 3; LI Tao 3   

  1. 1.四川大学华西医院医学遗传室, 教育部人类疾病生物治疗重点实验室人类疾病基因组学研究室,成都 610044; 2.广州市精神病医院,广州 510370;3.四川大学华西医院心理卫生中心,成都 610044 1. Department of Medical Genetics, West China Hospital, Sichuan University, and Division of Human Morbid Genomics, Key Laboratory of Biotherapy of Human Diseases, Ministry of Education, Chengdu 610041,China;2.Guangzhou Psychiatry Hospital, Guangzhou 510370, China; 3.Institution of Mental Health, West China Hospital, Sichuan University, Chengdu 610041, China
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2005-04-10 发布日期:2005-04-10

The C224T Polymorphism in the Cathepsin D Gene is not Associated with Sporadic Alzheimer’s Disease in Chinese

  • Received:1900-01-01 Revised:1900-01-01 Online:2005-04-10 Published:2005-04-10

摘要:

组织蛋白酶D(Cathepsin D)是一种细胞核内体/溶酶体内的门冬酰胺蛋白酶。它有可能通过剪切淀粉样前体蛋白参与阿尔茨海默氏病(Alzheimer’s disease, AD)相关的神经退化。在以德国人为对象中的研究显示组织蛋白酶D基因(CTSD)C224T多态与AD发病风险紧密相关。然而,此结果未能在另一些群体中得到重复。为此,我们通过聚合酶链反应-限制性片段长度多态性方法分析了CTSD基因C224T多态性和载脂蛋白E(apolipoprotein E, ApoE)基因多态性在成都地区汉族老年人中的分布,探讨了CTSD C224T多态与散发AD的相关性。结果发现CTSD基因C224T多态分布在病例组与对照组之间没有显著性差异,提示成都地区汉族人群中CTSD基因C224T多态与散发AD不具有关联;但比值比的比较提示CTSD等位基因T和ApoEε4有弱的协同作用。Abstract: Cathepsin D is the major lysosomal/endosomal aspartic protease and exhibits β- and γ-secretase-like activity in vitro. Data from German suggest that the C224T polymorphism in the Cathepsin D gene (CTSD) exon 2 is strongly associated with the risk for Alzheimer’s disease (AD).Meanwhile other studies have not been able to replicate the result. It’s necessary to determine the genotype of the polymorphism in CTSD in Chinese sporadic AD patients and age-matched controls with normal cognition and examine possible association of the polymorphism with the disease. We find no strong evidence of association between the CTSD C224T polymorphism and Chinese sporadic AD. Whereas there may be a weak synergistic interaction between ApoE ε4 and CTSD T allele.

关键词: Alzheimer’s disease, 限制性片段长度
Key words,
多态性, 组织蛋白酶基因, 阿尔兹海默氏病