Lin Juei-Jueng, Yueh Kuo-Chu, Chang Dar-Cheng, Chang Chung-Yao, Yeh Yung-Hsiang, Lin Shinn-Zong
Department of Neurology, Chushang Show-Chwan Hospital, Nantou, Taiwan, ROC.
J Neurol Sci. 2003 May 15;209(1-2):87-92. doi: 10.1016/s0022-510x(03)00002-9.
We investigated the role of variable number tandem repeat (VNTR) polymorphism of the dopamine transporter gene (DAT) in the pathogenesis of Parkinson's disease (PD) in Taiwanese. A case-control study was carried out to examine the association of the VNTR polymorphism within the DAT between 193 sporadic PD patients and 254 controls, matched by age and sex. Six alleles of VNTR polymorphism in the DAT, consisting of 6, 7, 8, 9, 10 and 11 copies of the 40-base-pair (bp) repeat sequence, were detected in the study. There were no differences of allele frequency (chi(2)=5.239, p=0.387) and genotype polymorphism of the DAT VNTR (chi(2)=11.873, p=0.157) in PD patients from the controls. Further analysis stratified by sex and age at onset did not show associations. However, PD patients carrying homozygote 10-copy genotype of the DAT VNTR polymorphism were 0.67 times fewer than controls (chi(2)=4.569, odds radio (OR)=0.67, 95% confidence interval (CI)=0.45-0.97, p=0.033). The reduced risk of the homozygosity with PD genotype was only in male PD patients (chi(2)=2.923, OR=0.48, 95% CI=0.25-0.93, p=0.026), but not in female PD patients (chi(2)=0.002, OR=1.02, 95% CI=0.49-2.11, p=0.966). In conclusion, the results of our study show that homozygote 10-copy genotype of the VNTR polymorphism within the DAT may confer a protective factor for male PD patients, but not for female PD patients.
我们研究了多巴胺转运体基因（DAT）可变数目串联重复序列（VNTR）多态性在台湾帕金森病（PD）发病机制中的作用。开展了一项病例对照研究，以检验193例散发性PD患者与254例按年龄和性别匹配的对照之间DAT内VNTR多态性的相关性。研究中检测到DAT中VNTR多态性的6个等位基因，由40个碱基对（bp）重复序列的6、7、8、9、10和11个拷贝组成。PD患者与对照之间的等位基因频率（χ² = 5.239，p = 0.387）和DAT VNTR的基因型多态性（χ² = 11.873，p = 0.157）没有差异。按性别和发病年龄分层的进一步分析未显示出相关性。然而，携带DAT VNTR多态性纯合子10拷贝基因型的PD患者比对照少0.67倍（χ² = 4.569，优势比（OR）= 0.67，95%置信区间（CI）= 0.45 - 0.97，p = 0.033）。PD基因型纯合性风险降低仅见于男性PD患者（χ² = 2.923，OR = 0.48，95% CI = 0.25 - 0.93，p = 0.026），而女性PD患者中未出现（χ² = 0.002，OR = 1.02，95% CI = 0.49 - 2.11，p = 0.966）。总之，我们的研究结果表明，DAT内VNTR多态性的纯合子10拷贝基因型可能是男性PD患者的一个保护因素，但对女性PD患者并非如此。
