Wang Binbin, Jin Feng, Xie Yanchen, Tang Ying, Kan Rui, Zheng Chenguang, Yang Ze, Wang Li
Center for Human and Animal Genetics, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China.
Neurosci Lett. 2006 Dec 6;409(3):179-81. doi: 10.1016/j.neulet.2006.09.042. Epub 2006 Oct 5.
Alterations of the NAD(P)H:quinone oxidoreductase (NQO1) activity are associated with Alzheimer's disease (AD). A polymorphism consisting of a single nucleotide (C-->T) change at position 609 of NQO1 influences the NQO1 activity. Therefore the NQO1 C609T polymorphism may confer susceptibility for AD developing. To test the hypothesis, we have performed an association study between the NQO1 gene polymorphism C609T and late-onset Alzheimer's disease (LOAD) in Chinese population. Totally 104 LOAD patients and 128 controls were enrolled in our data set. All subjects were genotyped for NQO1 and Apolipoprotein E (APOE). There were no significant differences in NQO1 genotype or allele frequencies between cases and controls. Likewise, with the stratification of APOE psilon4 status, no statistical difference was observed between cases and controls. Our findings suggested that this polymorphism might not represent additional genetic risk factor for LOAD. However, the present study cannot exclude NQO1 as a possible candidate for LOAD. Further study in a larger population and biological functional analysis of NQO1 gene is required to verify the role of NQO1 in LOAD.
烟酰胺腺嘌呤二核苷酸磷酸（NAD(P)H）：醌氧化还原酶1（NQO1）活性的改变与阿尔茨海默病（AD）相关。NQO1第609位的单个核苷酸（C→T）变化所构成的多态性会影响NQO1活性。因此，NQO1 C609T多态性可能会增加患AD的易感性。为验证该假设，我们在中国人群中开展了NQO1基因多态性C609T与晚发性阿尔茨海默病（LOAD）之间的关联研究。我们的数据集中共纳入了104例LOAD患者和128例对照。所有受试者均进行了NQO1和载脂蛋白E（APOE）基因分型。病例组与对照组之间的NQO1基因型或等位基因频率无显著差异。同样，按APOE ε4状态分层后，病例组与对照组之间也未观察到统计学差异。我们的研究结果表明，这种多态性可能并不代表LOAD的额外遗传风险因素。然而，本研究不能排除NQO1作为LOAD潜在候选基因的可能性。需要在更大规模人群中开展进一步研究并对NQO1基因进行生物学功能分析，以验证NQO1在LOAD中的作用。
