摘要
目的研究中国汉族人群中糖原合成酶激酶3β基因(GSK3B)3'端非翻译区(3'-UTR)基因多态性与阿尔茨海默病(AD)发病风险的相关性。方法采用直接测序的方法,对535例AD病例及464例正常对照的GSK3B基因3'-UTR单核苷酸多态性(SNPs)位点进行基因分型。结果 GSK3B基因3'-UTR各SNPs位点的等位基因频率和基因型分布在AD组和正常对照组之间的差异无统计学意义(P>0.05)。其中rs60393216、rs56728675和rs3732361存在强连锁不平衡,其构成的三种单体型的频率在AD组和正常对照组之间的差异无统计学意义(P>0.05)。结论 GSK3B基因3'-UTR多态性与中国汉族人群AD发病风险无关。
Objective To determine whether the single nucleotide polymorphisms( SNPs) in 3′-untranslated region( 3′-UTR) of glycogen synthase kinase-3 beta gene( GSK3B) is associated with Alzheimer's disease( AD) in Chinese Han population. Method Genotypes were determined by direct sequencing technology in 535 patients with AD and 464 controls. Results There was no significant difference in the allele or genotype frequencies for the SNPs in the 3′-UTR of GSK3B gene between AD patients and controls( P>0.05). There was a strong linkage disequilibrium among rs60393216, rs5672867 and rs3732361. The frequencies of haplotypes derived from these three SNPs showed no difference between AD patients and controls( P>0.05). Conclusion Our results do not support a genetic association between the polymorphisms in the 3′-UTR of GSK3B and the risk of AD in Han Chinese.
作者
王芬
贾建平
秦伟
魏翠柏
左秀美
周爱红
Wang Fen;Jia Jianping;Qin Wei;Wei Cuibai;Zuo Xiumei;Zhou Aihong(Department of Neurology,the Xuanwu Hospital,Capital Medical University,Beijing 100053,China)
出处
《脑与神经疾病杂志》
2019年第3期138-142,共5页
Journal of Brain and Nervous Diseases
基金
国家自然科学青年基金项目(81100797)
北京市卫生系统高层次卫生技术人才计划(2015-3-068)
