散发性阿尔茨海默病患者脑源性神经营养因子基因Val66Met多态性与载脂蛋白基因多态性关联性分析

目的探讨脑源性神经营养因子(BDNF)基因Val66Met、载脂蛋白E(APOE)基因多态性在散发性阿尔茨海默病(sporadic Alzheimer disease,sAD)发病机制中的作用。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测80例sAD患者和86例健康人中BDNF基因Val66Met和APOE基因多态性分布,并通过比值比(OR)对这两种基因与AD之间进行关联性分析。结果BDNF基因Val66Met多态性与sAD的发病风险显著相关;Met/Met基因型与Val等位基因携带者的OR=2.87,95%CI=1.31~6.28。SAD患者与APOE基因的ε4等位基因正关联,APOEε4与非ε4的OR=3.87,95%CI=1.91~7.88。在APOEε4中携带BDNF Met等位基因的OR=3.95,95%CI=1.40~11.16。结论BDNF基因Val66Met多态性可能是sAD发病的遗传危险因素,BDNF基因Val66Met多态性与APOE基因多态性之间有协同作用,APOEε4等位基因与BDNF Met等位基因同时存在时,患AD的危险性显著提高。

Analysis of the Interaction of the Val66Met Polymorphisms of Brain-derived Neurotrophic Factor Gene and APOE Gene in Sporadic Alzheimer's Disease

Objective To explore the association between BDNF Val66Met and APOE gene polymorphisrns and sporadic Alzheimer＇s disease （sAD）. Methods The polymorphisrns of BDNF Val66Met and APOE gene were determined in 80 sAD patients and 86 normal controls by PCR - RFLP method. Results The polymorphisms of Val66Met was significantly associa ted with sAD risk. The odds ratio for sAD associated with the Met/Met genotype VS Val - carriers was 2.87 （95%CI= 1.31 -6.28）, while that of 4 vsnon- 4 in APOE gene was 3.87 （95%CI= 1.91 - 7.88）. The odds ratio for APOεE and BDNF Met- carriers was 3.95 （95 % CI = 1.40 - 11.16）. Conclusion BDNF Val66Met polymorohism may be an independent genetic risk factor for sAD in Chinese, and the onset of sAD is associated with the interaction of the polymorphisms of BDNF Val66Met and APOE gene.