【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。更多还原

【Abstract】 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%; χ2 = 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%; χ2=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.更多还原