广州市阿尔茨海默病人及正常老人丁酰胆碱酯酶基因K变异对照研究

A control study of butyrylcholinesterase K variant in subjects with late onset Alzheimers disease and normal elderly in a Guzngzhou population

目的 观察丁酰胆碱酯酶基因 (BCHE)K变异在广州地区汉族老年人中的分布 ,探讨其与晚发阿尔茨海默病 (AD)的关联性。方法 以 10 6例晚发AD患者和 133名健康老年人为对象进行病例 对照研究。采用等位基因特异聚合酶链反应法 (AS PCR)分析BCHE基因K型多态性。结果 晚发AD患者和正常老年人中 ,正常等位基因 1的频率分别为 93 4 0 %和 93 6 1% ,K变异等位基因 2的频率分别为 6 6 0 %和 6 39% ;晚发AD患者和正常老年人之间BCHE基因K多态各等位基因和基因型分布差异无显著性 (P >0 0 5 ) ;样本采用载脂蛋白Eε4基因 (APOEε4 )分层后 ,AD组与对照组BCHE基因K变异频率仍然无显著性差异 (P >0 0 5 )。结论 BEHE K变异在广州地区汉族人群中与晚发AD不存在关联 ,提示该多态性不是晚发AD的风险因子。

Objective To investigate the possible involvement of the butyrylcholinesterase (BCHE) K variant in the manifestation of late onset Alzheimers disease (LOAD) in the Han Chinese in Guangzhou. Methods The K variant in the BCHE gene of 106 patients with LOAD and 133 age matched normal elderly controls were examined by allele specific single step polymerase chain reaction amplification technique. Results The frequency of BCHE 1 of the two groups was 93.40% and 93.61%, respectively ( P>0.05 ). The frequency of the BCHE K in LOAD and controls was almost identical, which was 6 60% and 6 39%, respectively ( P >0 05). The occurrence of the APOE epsilon4 did not influence the distribution of the BCHE K. Conclusions Our findings indicated no association between BCHE K variant and LOAD. The BCHE K variant does not confer a risk for LOAD.