LRP基因多态性和BCHE-K变异与阿尔茨海默病的相关性研究

Relationship between the polymorphism of low-density lipoprotein receptor-related protein gene,butyrylcholineste-rase-K variant and Alzheimer′s disease

目的探讨中国汉族人低密度脂蛋白受体相关蛋白(LRP)基因多态性、丁基胆碱酯酶基因K(BCHE-K)变异与阿尔茨海默病(AD)的相关情况。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)及等位基因特异-聚合酶链反应(AS-PCR)方法,观察了67例AD患者和77例正常人LRP基因和BCHE-K变异基因多态性的分布,并进行关联分析。结果AD患者LRP基因C/C纯合子基因型频率(88.1%)及等位基因C频率(94.0%)均高于对照组(P<0.05),AD患者BCHE-K变异与对照组比较均无显著性差异。结论LRP基因多态性与AD发病可能相关;BCHE-K变异与AD发病无明显相关性。

Objective To explore the relationship between low-density lipoprotein receptor-related protein （LRP） gene polymorphism, butyrylcholinesterase K（BCHE-K） variant and Alzheimer＇ s disease （AD） in Chinese. Methods The gene polymorphisms of LRP were examined in 67 cases of AD and 77 controls by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） methods, and BCHE-K variant was detected by allele-specific single step polymerase chain reaction amplification technique. Results The frequencies of C/C homozygote （88.1% ） and C allele （94.0%） in AD group were significantly higher than those in control group（72.7% and 85.1% respectively）. There was no significant difference of BCHE-K variant between two groups. Conclusions LRP gene polymorphism may be related to AD in Chinese patients with AD. No apparant association between BCHE-K variant and AD is found, and BCHE-K variant does not confer a risk for AD.