【摘要】 目的研究中国汉族人群中α抗胰凝乳蛋白酶启动子区51(ACT51)G/T多态性与阿尔茨海默病(Alzheimerdisease,AD)发病的相关性。方法通过实时定量荧光PCR和GeneAmp5700SDS软件检测544例AD患者和557例非痴呆对照者ACT51G/T的基因多态性,应用logistic回归模型分析与AD发病的相关性。结果ACT的G/G、G/T和T/T在AD组和对照组中分布差异存在显著性,携带T/T基因型比携带G/G基因型个体显示出较高的AD发病危险性(OR=1.50,P<0.05);非条件Logistic回归模型分析提示ACT的T/T和G/T基因型、高龄和女性均为AD发病的危险因素,调整年龄和性别影响后T/T和G/T基因型均为AD发病的危险因素,且对AD发病存在剂量效应关系,其OR值分别为3.55和1.55,P值分别为0.000和0.015。结论在中国汉族人群中ACT51T/T和C/T基因型、高龄和女性为AD发病的危险因素,共同影响AD的发病。更多还原

【Abstract】 Objective To define whether there is an association of the ACT-51 G/T polymorphism and AD in Chinese population. Methods Our samples were recruited from the outpatient clinics and population-based epidemiological survey. The diagnosis of AD met with criteria of NINCDS/ ADRDA about" probable AD", and the degree of severity was according to the GDS. All AD patients conducted cranial CT or MRI. The real time PCR method was used to detect the SNP. Multiple logistic regression and chi square test were performed to explore the risk factor for AD. Results The frequency of G/G, G/T and T/T genotype were 12.50%,42.83% and 44.67% respectively among AD patients, and 12.57%,52.24% and 35.19% respectively among non-dementia controls. The individuals with T/T genotype had increased risk for AD (OR for T/T vs G/G: 1.55, 95%CI: 1.20~2.00, P=0.003). Adjusted for age and sex, the risk of T/T and G/T genotypes for AD was still detected. In multivariate analysis, T/T and G/T genotypes of IL-1α-889, age≥65 years and female were risk factors for AD. Adjusted for the age and sex, T/T and G/T genotypes were still associated with AD. The OR for AD was 3.55 and 1.55 for individuals with T/T and G/T genotypes compared with individuals with G/G (genotypes.) Conclusions The ACT-51 polymorphisms is likely to be a susceptibility factor for development of AD in Chinese Han population.There is an apparent gene-environment interaction among the susceptibility genotype, age and sex.更多还原