β-分泌酶2外显子区多态性与中国北方汉族人群散发性阿尔茨海默病相关性分析  

Association between exon polymorphisms of BACE2 gene with Alzheimer disease

作　　者：于跃怡[1] 贾建平[1] 

机构地区：[1]首都医科大学宣武医院神经内科,100053

出　　处：《中华医学杂志》2014年第29期2274-2278,共5页National Medical Journal of China

摘　　要：目的 研究β-分泌酶2（BACE2）基因外显子区多态性与中国北方汉族人群散发性阿尔茨海默病（SAD）发病的相关性.方法 选取2000-2008年在首都医科大学宣武医院、北京市老年病医院、北京市十余家老人院及秦皇岛海港区社区就诊的348例SAD患者及2000-2008年首都医科大学宣武医院门诊体检及秦皇岛海港区退休人员体检的294名健康人为研究对象.应用随机数字表法选取10例SAD患者以及10名健康对照者进行BACE2外显子区测序.用微测序或者直接测序的方法对348例SAD患者及294名健康对照进行多态性分型.用SPSS 17.0统计软件包进行等位基因和基因型分布的比较及分析它们与疾病的关联性.结果 经筛查,中国北方汉族人群中的BACE2基因外显子区域附近存在3个多态性位点：分别为rs2252576C/T,rs1046210C/T和rs12149C/T.对这3个多态性位点的检测和统计分析得出：3个多态性位点的基因型和等位基因频率差异均无统计学意义.结论 BACE2外显子区域rs2252576C/T,rs1046210C/T和rs12149C/T多态性位点的等位基因和基因型频率与中国北方汉族人群SAD无关.Objective To explore the association between β-site APP-cleaving enzyme 2 gene exon polymorphisms with sporadic Alzheimer disease （AD） in a north Chinese Han population.Methods The exon regions of β-site APP-cleaving enzyme 2 gene were sequenced randomly in 10 sporadic AD patients and 10 healthy controls from Beijing and Qinhuangdao,Hebei province during 2000-2008.Using SnaPshot or direct sequencing,we genotyped these polymorphisms of 348 sporadic AD patients and 294 healthy controls in a Chinese Han population.By genetic statistical assay,we studied the association between these polymorphisms and the risks for sporadic AD.Results The sequencing of all exon regions of β-site APP-cleaving enzyme 2 gene revealed three polymorphisms of rs2252576C/T,rs1046210C/T and rs12149C/T.No association was detected between these three polymorphisms and sporadic AD even after statistical adjustments for age,gender and ApoEε4 status.Conclusions There is not a linkage between exon region polymorphisms of β-site APP-cleaving enzyme 2 gene and sporadic AD in a Chinese Han population.

关 键 词：阿尔茨海默病 淀粉样前体蛋白分泌酶类 基因 

分 类 号：R749.16[医药卫生—神经病学与精神病学]