摘要
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.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2003年第24期2124-2127,共4页
National Medical Journal of China
基金
国家863高技术研究发展计划资助项目(2002BA711A07)
国家973重点基础研究发展规划资助项目(G2000057005)
北京市"二四八重大工程"资助项目(955020500)
