BDNF基因启动子区多态性与散发性阿尔茨海默病的相关性研究

Association between promoter polymorphisms of BDNF gene and sporadic Alzheimer's disease

目的研究脑源性神经营养因子(BDNF)基因启动子区单核苷酸多态性与散发性阿尔茨海默病(SAD)发病的相关性。方法随机选取10例正常对照组及10例SAD患者进行BDNF基因启动子区-1～-2812bp测序,针对所发现的启动子区单核苷酸多态性(SNP),利用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法对328例正常对照者及292例SAD患者进行基因型检测后进行病例-对照关联分析。结果在中国北方汉族人群的BDNF基因启动子区发现1个SNP:-2467G/A(rs908867)。其等位基因及基因型分布在两组间无显著性差异(P值分别为0.10和0.27),经APOEε4分层后它们的分布在两组间也无显著性差异(P>0.05)。结论中国北方汉族人群BDNF基因启动子区的遗传变异可能与SAD发病无关。

Objective To investigate the relationship between the single-nucleotide polymorphisms in the promoter region of BDNF gene and sporadic Alzheimer＇s disease in Northern Chinese Han population. Methods The author sequenced the promoter range -1~ -2812 bp of BDNF gene in 10 controls and 10 SAD patients. Then the author genotyped these variations in 292 sporadic Alzheimer＇s disease patients and 328 healthy controls using PCR-RFLP and analyzed the association between them by case-control study. Results The author found only one polymorphism in the promoter of BDNF gene in Northern Chinese Han population： -2467G/A （rs908867）. There was no significant difference in the distributions of alleles and genotypes between the cases and controls （P0.05） .Conclusion There is one single-nucleotide polymorphism in Northern Chinese population. Our data do not support a genetic association between the polymorphism rs908867（-2467）G/A and SAD。