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). CONCLUSION: The findings of this study suggested that variants in the TDP1 gene might play a role in TS susceptibility.
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). CONCLUSION: The findings of this study suggested that variants in the TDP1 gene might play a role in TS susceptibility.
Authors: Dustin Y Yoon; Christopher A Rippel; Andrew J Kobets; Christina M Morris; Jennifer E Lee; Phillip N Williams; Dana D Bridges; David J Vandenbergh; Yin Y Shugart; Harvey S Singer Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2007-07-05 Impact factor: 3.568
Authors: Fatih Ozbay; Karen G Wigg; Eda Tahir Turanli; Phil Asherson; Yanki Yazgan; Paul Sandor; Cathy L Barr Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2006-09-05 Impact factor: 3.568
Authors: L D Taylor; D B Krizman; J Jankovic; A Hayani; P C Steuber; F Greenberg; R G Fenwick; C T Caskey Journal: Neurology Date: 1991-09 Impact factor: 9.910
Authors: Hiroshi Takashima; Cornelius F Boerkoel; Joy John; Gulam Mustafa Saifi; Mustafa A M Salih; Dawna Armstrong; Yuxin Mao; Florante A Quiocho; Benjamin B Roa; Masanori Nakagawa; David W Stockton; James R Lupski Journal: Nat Genet Date: 2002-09-16 Impact factor: 38.330
Authors: H S Singer; A L Reiss; J E Brown; E H Aylward; B Shih; E Chee; E L Harris; M J Reader; G A Chase; R N Bryan Journal: Neurology Date: 1993-05 Impact factor: 9.910
Authors: Bradley S Peterson; Prakash Thomas; Michael J Kane; Lawrence Scahill; Heping Zhang; Richard Bronen; Robert A King; James F Leckman; Lawrence Staib Journal: Arch Gen Psychiatry Date: 2003-04
Authors: Pawadee Lohavanichbutr; Lori C Sakoda; Christopher I Amos; Susanne M Arnold; David C Christiani; Michael P A Davies; John K Field; Eric B Haura; Rayjean J Hung; Takashi Kohno; Maria Teresa Landi; Geoffrey Liu; Yi Liu; Michael W Marcus; Grainne M O'Kane; Matthew B Schabath; Kouya Shiraishi; Stacey A Slone; Adonina Tardón; Ping Yang; Kazushi Yoshida; Ruyang Zhang; Xuchen Zong; Gary E Goodman; Noel S Weiss; Chu Chen Journal: Clin Cancer Res Date: 2017-10-03 Impact factor: 12.531