Jiang Xiao-hua, Yang Hui, Yang Jing-fang, Wang Hai-tao, Xu Qun-yuan, Chen Biao
Institute for Neuroscience, Capital University of Medical Sciences, Beijing, 100054 P.R.China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Apr;21(2):120-3.
To detect the putative association between the polymorphism of human NAD(P)H: quinone oxidoreductase (NQO1) gene and Parkinson's disease(PD).
Polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC) was used to detect the polymorphism of monoamine NQO1 gene cDNA 609 site(C-->T). The frequencies of alleles and genotypes in different PD groups were compared with those of the control group.
It was found that the frequencies of TT genotype in the patients with PD and in the controls were 0.226 and 0.118 respectively (P=0.004), i.e., TT genotype increased the risk of PD by 2.186-fold (P=0.005). When the patients with PD were divided into two groups by the age at onset, significant difference in the genotypic frequencies was observed only between late-onset PD group and control group (the frequencies of TT genotype being 0.260 and 0.118, P=0.001) and TT genotype increased the risk of late-onset PD by 2.627-fold(P=0.001). There were no significant differences in frequencies of alleles between different PD groups and control group.
This study revealed significant differences in genotypic frequencies between PD group and control group. The findings supported the hypothesis about an association between NQO1 gene and PD, suggesting that the age at onset of PD might be related to the putative association, and NQO1 cDNA C609T site be a risk factor for PD.
检测人类烟酰胺腺嘌呤二核苷酸磷酸（NAD(P)H）：醌氧化还原酶（NQO1）基因多态性与帕金森病（PD）之间的假定关联。
采用聚合酶链反应-变性高效液相色谱法（PCR-DHPLC）检测单胺NQO1基因cDNA 609位点（C→T）的多态性。比较不同PD组与对照组的等位基因和基因型频率。
发现PD患者和对照组中TT基因型频率分别为0.226和0.118（P = 0.004），即TT基因型使PD风险增加2.186倍（P = 0.005）。当按发病年龄将PD患者分为两组时，仅晚发型PD组与对照组之间基因型频率存在显著差异（TT基因型频率分别为0.260和0.118，P = 0.001），且TT基因型使晚发型PD风险增加2.627倍（P = 0.001）。不同PD组与对照组之间等位基因频率无显著差异。
本研究揭示了PD组与对照组之间基因型频率存在显著差异。这些发现支持了关于NQO1基因与PD之间关联的假设，表明PD的发病年龄可能与这种假定关联有关，且NQO1 cDNA C609T位点是PD的一个危险因素。
