Association of Genetic Variations in X-Ray Repair Cross-Complementing Group 1 and Tourette Syndrome

作者：Lin Wei Yong; Lee Cheng Chun; Liu Hsin Ping; Chou I Ching; Sheu Jim Jinn Chyuan; Wan Lei; Lin Ying Ju; Tsai Yuhsin; Tsai Fuu Jen^*

来源：Journal of Clinical Laboratory Analysis, 2012, 26(5): 321-324.

DOI：10.1002/jcla.21525

• X-ray repair cross-complementing group 1
• XRCC1
• Tourette syndrome (TS)
• polymorphism

Background X-ray repair cross-complementing group 1 (XRCC1) plays a central role in mammalian DNA repair process. The polymorphism rs25487 (Arg%26gt;Gln at codon 399) of this gene is common in Han Chinese population. Objectives The objective of this study was to analyze the association between this functional SNP of XRCC1 and Tourette syndrome (TS) in Han Taiwan Chinese population. Methods Genotyping was performed by using PCRRFLP method on 73 TS patients and 158 normal controls. Results Our data indicated that genotype frequency of A/G polymorphism at codon 399 of the patients differed from the controls (P = 0.026, OR: 2.22, 95% CI: 1.224.03). The allele frequency analysis also showed significant differences with higher A allele frequency in patients (P = 0.015, OR: 1.70, 95% CI: 1.112.62). Conclusion Our study indicates that the functional SNP at codon 399 of XRCC1 is associated with TS development. J. Clin. Lab. Anal. 26:321-324, 2012.

• 出版日期2012
• 单位中国医科大学