阿尔茨海默病脑源性神经营养因子和雌激素α受体基因的交互作用

Interaction of SNP in non-coding region between estrogen receptor alpha gene and brain-derived neurotrophic factor(BDNF) gene in late-onset Alzheimer's disease in southern Chinese Han population

目的探讨脑源性神经营养因子(BDNF)基因与雌激素α受体(ERα)基因在中国南方汉族晚发型(65岁以后发病)阿尔茨海默病(late-onset Alzheimers disease,LOAD)发病中是否存在交互作用。方法采用聚合酶链-限制性片段长度多态性(PCR-RFLP)方法检测203例LOAD患者与138名正常对照BNDF基因C270T位点、ERα基因XbaⅠ位点和PvuⅡ位点基因多态性,比较两基因位点间存在的交互作用。结果LOAD组和正常对照组之间BNDF基因C270T、ERα基因XbaⅠ和PvuⅡ3个基因多态性的基因型和等位基因频率差异均无统计学意义(P>0.05)。BDNF基因C270T位点与ERα基因XbaⅠ位点发生交互作用(2=23.96,P<0.01),同时携带CC和xx基因型的个体LOAD的发病风险增加(OR=2.38,95%CI:1.02～5.53)。结论BDNF基因和ERα基因在LOAD发病过程中存在交互作用,可能使个体LOAD的发病风险增加。

Objective To study the interaction of BDNF gene C270T polymorphism and estrogen receptor alpha （ERα） gene Xba I loci and Pvn Ⅱ loci polymorphism in late-onset Alzheimer＇s disease（LOAD） pathogenesis in southern Chinese Han population. Methods BNDF gene C270T locus, ERα gene Xba I site and Pvu II site polymorphisms were examined in 203 LOAD patients and normal controls using PCR-RFLP technique. Results There was an interaction between BDNF gene and ERα gene, and BDNF gene C270T locus CC genotype and the ERα gene Xba I locus xx genotype increased the LOAD incidence risk （ OR = 2. 38,95% CI： 1.02 - 5. 53 ）. Conclusions BDNF gene and ERa gene are in- teracted each other in the pathogenesis of LOAD. Patients carrying both BDNF gene C270T locus CC genotype and the ERa gene Xba I locus xx genotypes might have an increased risk for LOAD.