【摘要】 目的探讨胆固醇24S-羟化酶(cholesterol24-hydroxylase,CYP46)基因第二内含子单核苷酸多态性(single nucleotide polymorphism,SNP)与阿尔茨海默病(AD)的相互关系。方法采用等位基因特异性聚合酶链反应(allele-specific PCR,A-S PCR)技术检测508例AD患者和549名健康老年人CYP46基因第二内含子基因SNP的分布,并通过比值比(OR)做疾病关联分析。结果AD组与对照组CYP46基因SNP分布差异有统计学意义(12.9%,8.1%;χ2=6.59,P=0.037),AD组携带T等位基因(C/T+T/T)频率明显高于健康对照组(91.9%,87.0%;χ2=6.58,P=0.01)。Logistic回归分析表明,C/T和T/T基因型均是AD的危险因素,调整年龄和性别的影响后,其OR值分别为1.70(95%CI=1.10~2.63,C/T),1.69(95%CI=1.10~2.59,T/T)。结论CYP46基因的SNP与AD存在相关性,携带T等位基因可能是AD的危险因素。更多还原

【Abstract】 Objective To evaluate the association of an intronic single nucleotide polymorphism(SNP) in cholesterol 24S-hydroxylase (CYP46) gene with Alzheimer’s disease(AD) in Chinese Han population. Methods An intronic SNP of CYP46 gene was detected by Allele-Specific PCR (A-S PCR) technique in 508 patients with AD and 549 controls. Results The distribution of CYP46 genotypes was significantly different in AD patients as compared to the controls (12.9% vs 8.1%; χ2=6.59, P=0.037). The presence of at least one of CYP46 T allele (C/T or T/T) was higher in AD patients than the controls(91.9% vs 87.1%; χ2=6.58, P=0.01). One-Way ANOVA showed that CYP46 genotype had no effects on the age of onset of AD. Logistic regression analysis demonstrated the age and sex-adjusted OR for the risk of AD in CYP46 C/T and in CYP46 T/T genotype were 1.70 (95%CI=1.10—2.63) and 1.69 (95%CI=1.10—2.59) respectively. Conclusion This intronic SNP in CYP46 gene is associated with AD in Chinese Han population, and the T allele might be a risk factor for AD.更多还原