脑腓呔基因单核苷酸多态性与阿尔茨海默病相关性研究  

Correlation of polymorphisms of neprilysin gene with Alzheimer＇s disease

作　　者：徐珊瑚[1] 吴炯[1] 羊正纲[2] 倪姣娜[1] 

机构地区：[1]浙江医院神经内科,杭州310012 [2]浙江大学传染病研究所

出　　处：《浙江医学》2010年第8期1199-1200,1252,共3页Zhejiang Medical Journal

基　　金：浙江省自然基金（Y207388）

摘　　要：目的探讨浙江地区汉族人群脑腓呔基因159C／T多态性与晚发性阿尔茨海默病（AD）的相关性。方法采用聚合酶链式反应-限制性片段长度多态性（PCR—RFLP）技术检测141例AD患者（AD组）和145例健康体检者（对照组）脑腓呔基因159C／T位点多态性，并分析基因与疾病的相关性。结果两组脑腓呔159C／T等位基因频率及基因型构成差异无统计学意义（P〉0.05）。两组女性等位基因和基因型的分布频率差异有统计学意义（χ^2=7．717、8968，P〈0．05或0.01）C／C基因型与AD患病相关。结论脑腓呔159C等位基因的多态性及C／C基因型可增加女性患者AD的风险；推测脑腓呔与雌激素有一定的相互作用。Objective To investigate the correlation of neprilysin （NEP） gene polymorphism with Alzheimer＇s disease （AD）. Methods One hundred and forty four unrelated patient with Late-onset AD （AD group） and 145 non-AD subjects （control group） were enrolled in the study. The target fragments of NEP gene were amplified by polymerase chain reaction （PCR）. The polymorphisms of NEP gene 159C/T were detected by PCR-RFLP. Results No differences were found in allelic and genotype frequency of 159C/T polymorphisms between AD and control groups in general; however, there were significant differences between female AD patients and controls （χ^2=7.717 and 8.968, P〈0.05 and 0.01, respectively）. The C/C genotype was associated with female AD group. Conclusion The NEP gene 159C polymorphism and 159C/C genotype were associated with the late-onset AD in female patients, which may be related to the interaction between neprilysin and estrogen.

关 键 词：阿尔茨海默病 脑腓呔基因 单核苷酸多态性 雌激素 

分 类 号：R749.1[医药卫生—神经病学与精神病学]