Tourette Syndrome In Chinese Han Population Research Articles

Association of rs1013940 polymorphism in SLC5A7 with Tourette syndrome in Chinese Han population

Objective To investigate the association between rs1013940 in SLC5A7 and Tourette Syndrome (TS) in Chinese Han population. Methods Polymorphism was genotyped in 401 TS nuclear families trios from china by real-time fluorescent quantitive PCR. Transmission disequilibrium test (TDT) and Haplotype relative risk (HRR) were used to analyze the association between the genetic distrbution of rs1013940 and TS and the results were verified by haplotype-based haplotype relative risk(HHRR). Results No transmission disequilibrium was found between rs1013940 in SLC5A7 and TS by TDT and HRR(TDT: χ2 =0.268, P=0.657, OR=0.728, 95%CI=0.366-1.451; HRR: χ2=0.111, P=0.739, OR=0.959, 95%CI=0.762-1.466). HHRR also indicated the same result (HHRR: χ2=0.276, P=0.599, OR=1.082, 95%CI=0.806-1.453). Conclusion The result reveals that there is no significant association between rs1013940 in SLC5A7 and TS in Chinese Han population. However, the results need to be further validated in different populations. Key words: SLC5A7; Tourette syndrome; Single nucleotide polymorphism; Transmission disequilibrium test

Family-based association study of a variable number of tandem repeat polymorphism of DAT1 gene with Tourette syndrome in a Chinese Han population

To assess the association of a 40 bp variable number of tandem repeat (VNTR) polymorphism within 3 untranslated region of dopamine transporter gene (DAT1) with Tourette syndrome (TS) in a Chinese Han population. A total of 160 TS patients and their parents were recruited. The VNTR polymorphism was detected with polymerase chain reaction-VNTR analysis, and its association with TS and its subtypes were assessed through a family-based association study comprising transmission disequilibrium test (TDT) and haplotype relative risk (HRR) analysis. The repeat numbers at the DAT1 40 bp locus were 11, 10, 9, 7.5 and 7 among the patients and their parents, with the most common type being a 10-repeat allele. No significant association was detected between the polymorphism and TS (TDT: X ² = 0.472, df = 1, P = 0.583; HRR: X ² = 0.313, P = 0.576, OR = 0.855, 95%CI: 0.493-1.481). Our data suggested that the VNTR polymorphism of DAT1 gene is not associated with susceptibility to TS in Chinese Han population. However, our results are to be validated in larger sets of patients collected from other populations.

Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome

Tourette Syndrome (TS) is a complex neuropsychiatric disorder characterized by vocal and motor tics. While environmental causes have been proposed to play a role, genetic factors are believed to be the main determinants of the disorder and its clinical manifestations. Recently, a heterozygous W317X mutation in the histidine decarboxylase gene (HDC) was reported to be responsible for TS in a two-generation pedigree. To investigate whether the HDC gene play a role in TS in Chinese Han population, we performed genetic analysis of the coding region of the HDC gene in 100 Chinese Han patients with TS. Three variants were found including a C > T transition (IVS1 + 52C > T), a novel C > A transition (c.426C > A) in exon 4, and a novel G > A transition (c.1743G > A) in exon 12, both predicted with no amino acid change. Extended analysis was conducted in a total of 120 TS patients and 240 sex, age, and ethnicity matched healthy controls. No significant differences in genotypic and allele distribution between patients and controls for these three variants (P = 0.274, P = 1.000 and P = 0.632 for genotypic distribution, respectively; P = 0.143, P = 1.000 and P = 0.582 for allele distribution, respectively) were observed, suggesting variants in the HDC gene may play little or no role in TS susceptibility in Chinese Han population.