胆固醇酯转运蛋白基因多态性与阿尔茨海默病的关系  

Association of cholesteryl ester transfer protein (CETP) polymorphisms with Alzheimer’s disease

作　　者：陈大伟[1] 陈彪[1] 杨静芳[1] 冯秀丽[2] 汤哲[3] 董秀敏[1] 

机构地区：[1]首都医科大学北京宣武医院神经内科,100053 [2]首都医科大学北京宣武医院国家人类基因组北方中心,100053 [3]首都医科大学北京宣武医院社会医学和流行病学部,100053

出　　处：《中华神经科杂志》2006年第12期814-817,共4页Chinese Journal of Neurology

基　　金：国家"863"高技术研究发展计划资助项目(2002BA711A07-04;2002BA711A10);国家"973"重点基础研究发展规划资助项目(2006CB500701);北京市"二四八重大工程"资助项目(955020500)

摘　　要：目的探讨胆固醇酯转运蛋白(CETP)基因Taq1B、I405V和D442G3个单核苷酸多态性在散发阿尔茨海默病(sporadic Alzheimer disease,SAD)发病机制中的作用。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测了107例SAD患者和115名性别和年龄匹配的健康老年人CETP基因和载脂蛋白E(ApoE)基因多态性分布特征。结果对照组的D442G杂合子频率显著高于SAD组(分别为9%和2%,OR=0.202,95%CI0.043～0.958,P=0.044);ApoE基因分层后,ApoEε4携带者的D442G杂合子在对照组的频率显著高于SAD组(分别为22%和0,P=0.042),但ApoEε4非携带者的D442G杂合子频率在两组间差异无统计学意义(分别为6%和2%,P=0.284)。结论D442G突变可能是AD的独立保护性因素,这种保护性作用在ApoEε4携带者明显。Objective To investigate the association of three CETP polymorphisms （Taq1B, I405V and D442G） with sporadic Alzheimer＇ s disease （SAD）. Methods The genotypes of CETP and apolipoprotein E （ApoE） in 107 SAD and 115 age and gender-matched healthy elders were determined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） analysis. Results The frequency of D442G heterozygote was higher in control subjects than SAD patients （9% and 2% respectively, OR = 0. 202, 95% CI 0. 043-0. 958, P = 0. 044 ）. When the sample was stratified by ApoE allele status, the frequency of D442G heterozygote was also higher in control subjects than SAD patients in the present of ApoE ε4 （22% and 0 respectively, P =0. 042）, whereas there was no significant difference between control subjects than SAD patients among ApoE ε4 noncarriers （6% and 2% respectively, P = 0. 284 ）. Conclusion Our results indicate that CETP （D442G） polymorphism may independently decrease the risk of AD, and this protective role is more evident in the presence of ApoE ε4.

关 键 词：阿尔茨海默病 载体蛋白质类 载脂蛋白E类 多态性 单核苷酸 

分 类 号：R749.16[医药卫生—神经病学与精神病学]