早老素1基因多态性与迟发性阿尔茨海默病的遗传相关研究

Genetic association between presenilin 1 polymorphism and late onset Alzheimer′s disease

目的 对中国广州市汉族人群的早老素 1(PS1)基因内含子 8多态性与迟发性阿尔茨海默病 (AD)进行关联分析。方法 应用聚合酶链反应和限制性片段长度多态性方法 ,检测 10 4例迟发性AD患者 (AD组 )和 10 6名正常老年人 (对照组 )的PS1基因内含子 8的多态性 ,并对AD与PS1基因各等位基因及基因型进行了关联分析。结果 (1)AD患者组的PS1等位基因 1的频率 (0 6 0 )高于对照组 (0 48) ,等位基因 2的频率 (0 40 )低于对照组 (0 5 2 ) ,Z =2 45 ,P <0 0 5 ;1/ 1基因型频率 (0 37)高于对照组 (0 2 0 ) ,Z =2 80 ,P <0 0 5。 (2 )AD组与PS1等位基因 1呈显著性正相关 (RR =1 5 9,P <0 0 5 ) ,与PS1等位基因 2呈显著性负相关 (RR =0 6 3,P <0 0 5 ) ,与PS 1/ 1基因型呈显著性正相关(RR =2 33,P <0 0 1) ,与 2 / 2基因型无明显关联 (RR =0 6 8,P >0 0 5 )。

Objective To study genetic association between intron 8 polymorphism in presenilin 1 gene and late onset Alzheimer′s disease (LOAD) in Han Chinese Methods Blood samples were collected from 104 Han Chinese with late onset Alzheimer′s disease [41 men and 63 women, age ranged from 69～ 98 years, mean (84±13 )years] meeting DSM Ⅳ and CCMD 2 R Criteria and from 106 age matched controls [50 men and 56 women, age range (67～93) years, mean (80±9 )years] in Guangzhou City, China Association between LOAD and a polymorphism within the intron 8 of the presenilin 1 gene was analyzed using polymerase chain reaction and restriction fragment length polymorphism Results (1) In LOAD, the frequency of allele 1 and genotype 1/1 increased significantly, the value for Z test was 2 45 and 2 80, respectively (2) LOAD was significantly associated with allele 1 (relative risk, RR =1 59,χ 2=5 59, P <0 05)and genotype 1/1 ( RR =2 33, χ 2=7 27, P <0 01)of PS1 intron 8 polymorphism Conclusion There was a genetic association between intron 8 polymorphism in PS1 gene and LOAD in Han Chinese