ApoE基因多态性与阿尔茨海默病的相关性研究

The association between the polymorphisms of ApoE gene and Alzheimer’s disease

目的探讨阿尔茨海默病(Alzheimerdisease,AD)与载脂蛋白E(ApoE)基因多态性的关系。方法采用PCR-RFLP方法,对68例晚发型AD(LOAD)、54例早发型AD(EOAD)和168例对照组进行ApoE基因型测定,对AD患者的ApoE基因多态性进行相关分析。结果两组人群ε3/ε3基因型比例最大,未发现ε2/ε2基因型。APOEε4携带者的频率在LOAD组中是52.5%(43/80),对照组16.1%(27/168),其差别有显著性(χ2=36.2,P<0.0001,RR=5.76,95%CI=3.17-10.47);APOEε4携带者的频率与EOAD呈显著性相关(χ2=6.11,P=0.0135,RR=2.40,95%CI=1.18-4.86)。结论ε4等位基因与LOAD、EOAD呈显著性相关,是AD的危险因素之一。

Objective To study the association between the apolipoprotein E（ApoE） gene polymorphism and Alzheimer disease （AD） . Methods The polymorphism of the ApoE gene was detected by using PCR- RFLP technique for 68 LOAD patients, 54 EOAD patients and the control of 168. Results The most frequent genotype was ε3/ε3, but ε2/ε2 was not observed in the 3 groups. The frequency of ApoEε4 allele carriers in LOAD cases and control was 52.5% （43/80） and 16.1% （27/168）, respectively, and there was also a significant difference （X^2 =- 36.2, P〈 0. 0001, RR= 5.76, 95 % CI= 3. 17-10.47）. The frequency of ApoEε4 allele carriers was significantly （X^2 = 6.11, P = 0. 0135, RR=2.40, 95% CI=1. 18-4.86） associated with EOAD. Conclusions ApoEε4 allele was significantly associated with LOAD and EOAD, It is one risk factor of AD.