GSK3B基因启动子区多态性与中国北方汉族人群阿尔茨海默病的相关分析

目的研究中国北方汉族人群中糖原合成酶激酶38基因（GSK3B）启动子区rs334558位点基因多态性与阿尔茨海默病（AD）易感性的相关性。方法采用直接测序的方法，对403例AD病例及369名对照外周血DNA的GSK3B基因多态位点rs334558进行基因分型。结果AD组与对照组rs334558位点等位基因和基因型分布相似，等位基因T的频率在AD组和对照组分别为38．8％和37．9％，差异无统计学意义（y。一0．130，P〉0．05）。按照性别或者是否携带AopF~4等位基因分别进行分层分析，发现AD组和对照组之间等位基因频率和基因型分布的差异无统计学意义（，分别为0．331，0．565；P〉0．05）。结论GSK3B基因启动子区多态性位点rs334558可能与中国汉族人群AD发病无关。

Association of the polymorphism in promoter region of GSK3B with Alzheimer's disease in Chinese Han population

Objective To determine whether the polymorphism rs334558 in promoter region of glycogen synthase kinase--3 beta gene （GSK3B） is associated with Alzheimer＇s disease （AD） in Chinese Han population. Methods Genotypes were determined by direct sequencing technology in 403 patients with AD and 369 controls. Results There was no significant difference in the allele or genotype frequen- cies for GSK3B gene between AD patients and controls （2 ~ 0. 130,P ~ 0.05）, The frequencies of the minor allele T were 0. 388 and 0. 379 in both groups respectively. After stratification by gender or APOE ~4 status, the distribution of allele and genotype showed no difference between AD patients and controls （X2 = 0. 331,0. 565~P ~ 0.05）. Conclusions Our results do not support a genetic association between the promoter polymorphism rs334558 of GSK3B gene and the risk of AD in Han population.