Slitrk1基因和中国汉族抽动秽语综合症患者抑郁关系研究

Relationship between Slitrk1 Gene and Depression Symptoms in Chinese Han Patients with Tourette Syndrome

摘要: 目的：探讨Slitrk1基因单核苷酸多态性与中国汉族抽动秽语综合症抑郁症状之间的关联性。方法：釆用病例对照研究，纳入研究的中国汉族抽动秽语综合症患者1000例，对照1000例，收集一般人口学资料及临床数据，应用Excel软件建立数据库。提取研究对象全基因组DNA，利用Taqman探针分型技术对Slitrk1基因中四个单核苷酸多态性位点进行基因型的测定，采用SHEsis软件平台，在两组人群中进行基因型频率的分析。结果：Slitrk1基因4个SNPs位点在人群中的分布均符合Hardy-Weinberg遗传平衡定律(P > 0.05)。基因rs144821830位点的基因型分布频率在两组间差异有统计学意义(P = 0.005)，其中病例组中CT基因型频率高于对照组，TT基因型频率低于对照组；基因rs3737193、rs144800086、rs145628951位点的基因型频率在两组间均无差异(p < 0.05)。与正常对照组比较，TS抑郁组及其亚组Slitrk1位点基因型及等位基因频率没有统计学差异(均P > 0.05)。结论：Slitrk1基因(rs144821830)位点与中国汉族人群中国汉族抽动秽语综合症相关联，Slitrk1基因可能参与了中国汉族抽动秽语综合症的发病机制。没有发现Slitrk1基因(rs144821830)和中国汉族抽动秽语综合症患者的抑郁症状之间的关系。

Abstract: Objective: To investigate the relationship between the single nucleotide polymorphism of Slitrk1 gene and the depressive symptoms of Chinese Han patients with Tourette syndrome. Methods: A case-control study was conducted. 1000 Chinese patients with Tourette syndrome were included in the study. General demographic data and clinical data were collected. Excel software was used to establish the database. The whole genome DNA of the research object was extracted, and the genotypes of four single nucleotide polymorphisms in the Slitrk1 gene were determined by Taqman probe typing technology. The genotype frequency was performed in the two groups using the SHEsis software. Results: The distribution of four SNPs in the Slitrk1 gene was consistent with the Hardy-Weinberg genetic equilibrium law (P > 0.05). The genotype distribution frequency of gene rs144821830 was statistically significant (P = 0.005). The frequency of CT genotype was higher in the case group than in the control group, and the frequency of TT genotype was lower than that of the control group; gene rs3737193, rs144800086. The genotype frequencies of rs145628951 loci were not different between the two groups (p < 0.05). Compared with the normal control group, there was no significant difference in the genotype and allele frequency of the Slitrk1 locus between the TS depression group and its subgroup (P > 0.05). Conclusion: The Slitrk 1 gene (rs144821830) may be involved in the pathogenesis of Chinese Han patients with Tourette syndrome. No relationship was found between the Slitrk1 gene (rs144821830) and the depressive symptoms of Chinese Han patients with Tourette Syndrome.