【摘要】 目的　探讨淀粉样 β分泌酶 (BACE)基因与阿尔茨海默病 (AD)发病风险的关系。方法　采用聚合酶链反应和限制性片段长度多态方法 ,在上海 12 1例汉族AD患者和 16 5名正常人中检测BACE1915 91C/G、BACE2 116 9C/T及apoE基因多态的分布。按比值比 (OR)做疾病关联分析。结果　 (1)BACE1基因 915 91C/G多态G/G基因型、G等位基因均与AD显著关联 [G/G基因型 :OR =2 0 72 ,95 %可信区间 (95 %CI) =1 2 5 9～ 3 4 12 ;G等位基因 :OR =1 6 2 6 ,95 %CI=1 15 5～ 2 2 89];按apoEε4等位基因分层后 ,仅apoEε4阳性者中存在显著相关 (G/G基因型 :OR =5 339,95 %CI=1 6 2 7～ 17 5 2 3;G等位基因 :OR =2 2 0 3,95 %CI=1 14 9～ 4 2 2 6 )。 (2 )AD患者与正常对照人群间BACE2基因 116 9C/T多态分布的差异无显著性 (χ2 =0 6 4 5 ,ν=2 ,P =0 72 4 )。结论　上海地区汉族人群中 ,BACE1基因可能协同apoEε4基因 ,共同参与AD的发病风险。更多还原

【Abstract】 ObjectiveTo determine the relationship between the amyloid β secretase （BACE1, BACE2） gene polymorphisms and the risk for sporadic Alzheimer′s disease （AD）. MethodsTwo polymorphisms in BACE1 and BACE2 genes in 121 AD cases and 165 healthy subjects were detected with polymerase chain reaction （PCR） and restriction fragment length polymorphism （RFLP） genotyping technique. The polymorphic distributions were compared between the two groups, and the odds ratio was calculated for association analysis. Results（1） Significant association existed between AD and the BACE1 19 591 C/G polymorphism （For geneotype GG, OR =2.072, 95% CI =1.259-3.412; For allele G, OR =1.626, 95% CI =1.155-2.289）. When stratified according to the apoE ε₄ status, marked association was only observed in ε₄ carriers （genotype G/G: OR =5.339, 95% CI =1.627-17.523; allele G, OR =2.203, 95% CI =1.149-4.226）. （2） No correlation was observed between the BACE2 1 169C/T polymorphism and the risk for AD. ConclusionThe BACE1 gene might be a susceptibility factor for AD in our samples, particularly in those with apoE ε₄.更多还原