阿尔茨海默病与NQO1和载脂蛋白E基因多态性关联分析

Association between NAD(P)H:quinone oxidoreductase and apolipoprotein E gene polymorphisms in Alzheimer′s disease

目的 探讨NQO1基因C6 0 9T位点突变及其与载脂蛋白 (Apo)E基因相互作用在散发性阿尔茨海默病 (SAD)发病机制中的作用。方法 应用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)方法检测了 92例SAD患者和 10 8例正常老年人NQO1基因和ApoE基因多态性分布特征。结果 NQO1T等位基因和T/C +T/T基因型频率SAD组分别为 5 6 %和 89% ,对照组分别为 4 5 %和 71%。SAD组ApoE2等位基因频率显著低于对照组 (χ2 =3.75 3,P <0 .0 5 ) ,而ApoE4等位基因频率高于对照组 ,但差异无显著意义 (χ2 =1.86 3,P =0 .172 )。同时 ,NQO1T/T和T/C基因型与SAD发病相关不受ApoE基因型影响。结论 NQO1基因多态性与中国汉族人SAD发病有明显关联。NQO1基因可能是中国汉族人SAD发病独立的易感基因。

Objective To assess the association between NAD (P) H: quinone oxidoreductase 1 (NQO1) C609 T allele and apolipoprotein E (ApoE) polymorphism and sporadic Alzheimer disease (SAD). Methods The polymorphisms of NQO1 and ApoE gene were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 92 SAD patients and 108 normal controls, all of Han nationality. Results The frequencies of mutant T allele and T/C+T/T genotype at nucleotide position 609 of NQO1 gene were 56% and 89% respectively in the patients with SAD, significantly higher than those in the controls (45% and 71% respectively) with an odds ratio of 1.56 (for mutant T allele) and of 3.301 (for genotype) respectively. The frequency of the ApoE2 allele was significantly lower in the SAD patients than in the controls (χ2=3.753, P< 0.05) and the frequency of ApoE4 was higher in the SAD patients, however, without a statistically significant difference (χ2=1.863, P= 0.172). No significant interaction was found between NQO1 C609T and ApoE polymorphisms in SAD patients. Conclusion NQO1 C609T may be an independent genetic risk factor for SAD in Chinese.