title: Association of tyrosyl-DNA phosphodiesterase 1 polymorphism with Tourette syndrome in Taiwanese patients.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  The findings of this study suggested that variants in the TDP1 gene might play a role in TS susceptibility.
authors.affiliation: Department of Physical Therapy, Graduate Institute of Rehabilitation Science, China Medical University, Taichung, Taiwan.
authors.forename: Bor-Tsang
authors.initials: BT
authors.lastname: Wu
authors.forename: Wei-Yong
authors.initials: WY
authors.lastname: Lin
authors.forename: I-Ching
authors.initials: IC
authors.lastname: Chou
authors.forename: Hsin-Ping
authors.initials: HP
authors.lastname: Liu
authors.forename: Cheng-Chun
authors.initials: CC
authors.lastname: Lee
authors.forename: Yuhsin
authors.initials: Y
authors.lastname: Tsai
authors.forename: Wan-Chen
authors.initials: WC
authors.lastname: Wu
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan; D005879:Tourette Syndrome / Q000235:genetics*
chemical_list: D010727:Phosphoric Diester Hydrolases; C122147:tyrosyl-DNA phosphodiesterase
keywords: DNA repair; SNP; TDP1; Taiwan; Tourette