中性内肽酶基因C159T多态性与阿尔茨海默病关联的初步研究  

Association between the neprilysin gene polymorphism and Alzheimer's disease in the Han Chinese

作　　者：李爱凤[1] 叶莉英[1] 杨婵娟[1] 唐牟尼[1] 郭扬波[1] 

机构地区：[1]广州市精神病医院,广州510370

出　　处：《中国神经精神疾病杂志》2009年第4期246-248,共3页Chinese Journal of Nervous and Mental Diseases

基　　金：广东省医学科学技术研究基金资助项目(编号:A2005588)

摘　　要：目的观察中性内肽酶(neprilysin,NEP)C159T多态在广东地区汉族老年人中的分布,探讨其与晚发阿尔茨海默病(AD)的相关性。方法以91例晚发AD患者和97名正常老年人为对照进行病例-对照研究。用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)分析NEP基因C159T多态性和载脂蛋白E(apoE)基因多态性。结果AD组C159T多态T等位基因频率较对照组降低(23.2%vs25.3%,х=184.96,P<0.05),而两组间基因型频率差异无统计学意义(P>0.05)。AD组apoE等位基因ε4与AD成正关联(19.2%vs8.2%,OR=2.648,х=9.66,P<0.05)。无论是否携带ApoEε4,C159T各基因型和等位基因分布在两组间差异均无统计学意义(P>0.05)。结论NEP基因C159T多态C等位基因可能与晚发AD关联,未发现ApoEε4与该多态性存在协同效应。Objective To investigate the effect of the polymorphism of C159T in NEP gene on the development of late-onset Alzherimer＇s disease （LOAD） in the elderly Han Chinese in Guangdong. Methods NEP and apoE polymorphisms were determined by PCR-RFLP in ninety one patients with AD and ninety seven age, sex matched healthy elderly Chinese subjects in the case-control trial. Results The frequency of NEP T allele in AD group decreased significantly compared with controls （23.2% vs 25.3%, X^2 = 184. 96, P 〈 0. 05 ）. of owever, there was no difference in genotypic fiequency between the two groups（ X^2 =0. 315, P 〉0. 05）. ApoEε4 allele was associated with LOAD （ 19.2% vs 8. 2%, OR = 2. 648,X^2 = 9. 66 ,P 〈 0. 05 ）. （3）There was no difference in the distribution of NEP C159T genotype between both two groups in either presence or absence of apoEε4. Conclusions Our results indicate that NEP gene C159T polymorphism may be associated with LOAD in the Hart Chinese population, but apoEε4 does not affect the distribution of C159T polymorphism.

关 键 词：Alzhermer病 中性内肽 酶载脂蛋白E 基因 多态性 

分 类 号：R749.1[医药卫生—神经病学与精神病学]