Department of Physical Therapy, Graduate Institute of Rehabilitation Science, China Medical University, Taichung, Taiwan.
J Clin Lab Anal. 2013 Jul;27(4):323-7. doi: 10.1002/jcla.21606.
Genetic, environmental, immunological, and hormonal factors contribute to the etiology of Tourette syndrome (TS). From the genetic standpoint, TS is a heterogeneous disorder. In our previous study, we found that a single nucleotide polymorphism (SNP) of x-ray repair cross-complementing group 1 (XRCC1), a DNA repair gene, was associated with TS. Previous studies also showed that tyrosyl-DNA phosphodiesterase 1 (TDP1) interacts with XRCC1 to repair damaged DNA. However, the relationship between TS and SNPs of TDP1 gene is unknown. Therefore, the aim of this study was to test the hypothesis that if the TDP1 SNP, rs28365054 (c.400G>A, Ala134Thr), was associated with TS or not.
A case-control study was designed to test the hypothesis. A total of 122 TS children and 106 normal children participated in the study. We used polymerase chain reaction to identify the SNP, rs28365054, of the TDP1 gene in the TS patients and the normal children.
A polymorphism at position rs28365054 in the TDP1 gene had a significant difference (P < 0.05) in the genotype distributions between the TS patients and the control group. The AG genotype was a risk factor for TS with an odds ratio of 2.26 for the AG versus AA genotype (95% CI 1.08-4.72).
The findings of this study suggested that variants in the TDP1 gene might play a role in TS susceptibility.
遗传、环境、免疫和激素因素都促成了妥瑞氏综合征（TS）的发病机制。从遗传学角度来看，TS 是一种异质性疾病。在我们之前的研究中，我们发现 DNA 修复基因 X 射线修复交叉互补组 1（XRCC1）的单核苷酸多态性（SNP）与 TS 有关。先前的研究还表明，酪氨酰-DNA 磷酸二酯酶 1（TDP1）与 XRCC1 相互作用以修复受损的 DNA。然而，TS 与 TDP1 基因 SNP 之间的关系尚不清楚。因此，本研究旨在检验假设，即 TDP1 基因 SNP rs28365054（c.400G>A，Ala134Thr）是否与 TS 有关。
设计了一项病例对照研究来检验这一假说。共有 122 名 TS 儿童和 106 名正常儿童参与了这项研究。我们使用聚合酶链反应来鉴定 TS 患者和正常儿童的 TDP1 基因中的 SNP rs28365054。
TDP1 基因中 rs28365054 位置的多态性在 TS 患者和对照组的基因型分布中存在显著差异（P < 0.05）。AG 基因型是 TS 的危险因素，AG 与 AA 基因型相比，比值比为 2.26（95%可信区间为 1.08-4.72）。
这项研究的结果表明，TDP1 基因的变异可能在 TS 的易感性中起作用。
