He Fan, Zheng Yi, Huang Huan-Huan, Cheng Yu-Hang, Wang Chuan-Yue
Department of Psychiatry, Beijing Anding Hospital, Capital Medical University; Center of Schizophrenia, Beijing Institute for Brain Disorders, Beijing 100088, China.
Chin Med J (Engl). 2015 Mar 5;128(5):654-8. doi: 10.4103/0366-6999.151665.
Tourette syndrome (TS) is a complex, heterozygous genetic disorder. The number of molecular genetic studies have investigated several candidate genes, particularly those implicated in the dopamine system. The dopamine D3 receptor (DRD3) gene has been considered as a candidate gene in TS. There was not any report about the association study of TS and DRD3 gene in Han Chinese population. We combined a case-control genetic association analysis and nuclear pedigrees transmission disequilibrium test (TDT) analysis to investigate the association between DRD3 gene rs6280 single nucleotide polymorphisms (SNPs) and TS in a Han Chinese population.
A total of 160 TS patients was diagnosed by the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. The DRD3 gene rs6280 SNPs were genotyped by TaqMan SNP genotyping assay technique in all subjects. We used a case-control genetic association analysis to compare the difference in genotype and allele frequencies between 160 TS patients and 90 healthy controls. At the same time, we used TDT analysis to identify the DRD3 gene rs6280 transmission disequilibrium among 101 nuclear pedigrees.
The genotype and allele frequency of DRD3 gene rs6280 SNPs had no statistical difference between control group (90) and TS group (160) (χ2 = 3.647, P = 0.161; χ2 = 0.643, P = 0.423) using Chi-squared test. At the basis of the 101 nuclear pedigrees, TDT analysis showed no transmission disequilibrium of DRD3 gene rs6280 SNPs (χ2 = 0; P = 1).
Our findings provide no evidence for an association between DRD3 gene rs6280 and TS in the Han Chinese population.
抽动秽语综合征（TS）是一种复杂的杂合子遗传疾病。多项分子遗传学研究对多个候选基因进行了调查，特别是那些与多巴胺系统相关的基因。多巴胺D3受体（DRD3）基因被认为是TS的一个候选基因。在汉族人群中，尚未有关于TS与DRD3基因关联研究的报道。我们结合病例对照遗传关联分析和核心家系传递不平衡检验（TDT）分析，来研究汉族人群中DRD3基因rs6280单核苷酸多态性（SNP）与TS之间的关联。
根据《精神疾病诊断与统计手册》第四版的诊断标准，共诊断出160例TS患者。采用TaqMan SNP基因分型检测技术对所有受试者的DRD3基因rs6280 SNP进行基因分型。我们使用病例对照遗传关联分析来比较160例TS患者和90例健康对照之间基因型和等位基因频率的差异。同时，我们使用TDT分析来确定101个核心家系中DRD3基因rs6280的传递不平衡情况。
使用卡方检验，对照组（90例）和TS组（160例）之间DRD3基因rs6280 SNP的基因型和等位基因频率无统计学差异（χ2 = 3.647，P = 0.161；χ2 = 0.643，P = 0.423）。基于101个核心家系，TDT分析显示DRD3基因rs6280 SNP无传递不平衡（χ2 = 0；P = 1）。
我们的研究结果没有提供证据表明汉族人群中DRD3基因rs6280与TS之间存在关联。
