对氧磷酶1基因Gln192Arg多态性与阿尔茨海默病的相关性分析  

Paraoxonase 1 gene Gln192Arg polymorphism in and Alzheimer disease

作　　者：何小明[1] 张振馨[1] 张俊武 周涌涛[1] 唐牟尼[3] 武成斌[4] 洪震[5] 

机构地区：[1]中国医学科学院中国协和医科大学北京协和医院神经内科,100730 [2]中国医学科学院中国协和医科大学基础医学研究所,100730 [3]广州脑科医院精神科 [4]西安交通大学第一医院神经内科 [5]上海复旦大学附属华山医院神经内科

出　　处：《中华内科杂志》2006年第4期270-273,共4页Chinese Journal of Internal Medicine

基　　金：国家九五攻关基金资助项目(960960501);美国中华医学基金会国际合作项目(99699)

摘　　要：目的探讨中国汉族人群中对氧磷酶1(PON1)基因Gln192Arg单核苷酸多态性(SNP)与阿尔茨海默病(AD)的相互关系。方法采用实时定量PCR技术检测521例AD患者和578例健康老年人PON1基因Gln192Arg位点SNP的分布,并通过OR做疾病关联分析。结果AD组(Q/R+R/R)基因型频率较对照组低,统计分析差异有统计学意义(χ2=4.68,P=0.03);等位基因频率差异也存在统计学意义,AD组R等位基因频率明显低于对照组(χ2=3.85,P=0.05)。logistic回归分析表明,调整年龄和性别的影响后,(Q/R+R/R)基因型患AD的危险性是Q/Q基因型的0.71倍(P=0.044,95%CI=0.51～0.99)。结论中国汉族人群中PON1基因Gln192Arg位点R等位基因可能是AD的保护因素。Objective The aim of this study was to evaluate the association of Gln192Arg polymorphism in paraoxonase 1 （PON1） gene with Alzheimer＇s disease （AD） in Chinese Han population. Methods Gln192Arg polymorphism in PON1 gene was detected with real-time PCR （RT-PCR） technique in 521 patients with AD and 578 healthy controls. Results The presence of at least one of PON1 R allele （ Q/R or R/R） was lower in AD patients as compared with the controls （ 82. 7% vs 87. 4% ; X^2=4.68, P=0. 03）. PON1 gene R allele frequency was lower in AD patients as compared with the controls （60. 7% vs 64. 7% ; X^2=3.85, P = 0. 05）. One-Way ANOVA showed that PON1 genotype had no effect on the age of onset of AD. Logistic regression analysis demonstrated that the age and sex-adjusted OR for the risk of AD in PON1 R allele carriers was 0. 71 （ P = 0. 044, 95% CI = 0. 51-0. 99 ）. Conclusion Our results indicate that Gln192Arg polymorphism in PON1 gene is associated with AD and PON1 R allele might be a protective factor for AD in Chinese Han population.

关 键 词：阿尔茨海默病 多态性 单核苷酸 

分 类 号：R749.161[医药卫生—神经病学与精神病学]