中国人群中载脂蛋白E等位基因型与阿尔茨海默病的相关性分析

目的：研究中国人群中载脂蛋白E等位基因型与阿尔茨海默病的关联。方法：利用PCR和限制性内切酶酶解,分析阿尔茨海默病患者及正常老年人载脂蛋白E各等位基因、基因型的频率。结果：ApoEε2、ApoEε3、ApoEε4这三个等位基因出现的次数（和频率）在56例散发性阿尔茨海默病（AD）患者中分别3(2．7％）、84（75．0％）、25（22．3％）,而在67例健康对照中分别为9（6．7％）、115（85．8％）、10（7．5％）。ApoEε4等位基因在AD患者中出现的频率明显高于对照组,统计学处理说明其差异有显著性（χ^2=10.99,P＜0．01,OR＝3．59,95％CI＝1．54－8．41）;ApoEε3等位基因在AD组中出现的频率低于对照组,两组中的差异也有统计学意义（P＜0．05）。结论：ApoEε4等位基因是AD的危险因素,ApoEε3等位基因在AD的发生中可能具有一定保护作用。

An association analysis of apolipoprotein E genotypes with Alzheimer's disease in Chinese population

OBJECTIVE: To analyse the association of apolipoprotein E genotypes with Alzheimer's disease in Chinese population. METHODS: Using PCR and restriction enzyme digestion, we have analyzed ApoE allele frequency of Alzheimer's disease (AD) patients and healthy controls. RESULTS: Among the 56 cases of AD, the frequency of ApoE epsilon 2, ApoE epsilon 3, ApoE epsilon 4 are 3 (2.7%), 84 (75.0%), 25 (22.3%) respectively, while in the 67 controls they are 9 (6.7%), 115 (85.8%), 10 (7.5%) respectively. The frequencies of the two groups have significant difference (P < 0.01) and the frequency of ApoE epsilon 4 allele is higher in AD than that in the health controls and the statistical treatment suggest that there is significant difference (chi 2 = 10.99, P < 0.01, OR = 3.59, 95% CI = 1.54-8.41). The frequency of the ApoE epsilon 3 is lower in AD than that in the health controls and the difference is also statistically significant(P < 0.05). CONCLUSIONS: Our results are consistent with previous work in that proving the ApoE epsilon 4 allele is one of the risk factors of AD. The results also provide a support for the protection effect of ApoE epsilon 3 allele in developing AD.