5-HT 102T/C多态性与Tourette综合征的病例对照及核心家系关联分析

目的 研究5－羟色胺受体102T／C多态性是否与Tourette综合征（TS）相关联,方法对157个核心家系样本采用病例－对照关联分析,传递不平衡检验方法,聚合酶链反应及RFLP等技术,根据TS与强迫症（obsessive compulsive disorder,OCD)的同病现象,将TS划分亚组进行与5－羟色胺受体102T／C多态性的关联分析。结果 合并OCD的TS与该位点的基因型102C／C（X2＝8．38,P＝0．004）及等位基因102C／（X2＝4．84,P＝0．028）存在关联,进一步采用传递不平衡分析,发现合并（美国精神疾病诊断和统计手册IV》论断标准的OCD的TS与该位点存在关联或连锁不平衡（X2＝5．12,,P＝0．02）,而在TS总体样本及单纯TS样本中未发现与该位点的关联,结论 5－羟色胺受体102T／C多态性与中国人群合并OCD的TS存在关联,合并OCD的TS可能是TS中相对独立的一个亚型。

Cases-Control association study and transmission disequilibrium test of T102C polymorphism in 5HT2A and Tourette syndrome

OBJECTIVE: To investigate whether T102C polymorphism in 5HT2A (serotonin receptor 2A) is associated with Tourette syndrome. METHODS: Both case-control association analysis and Transmission Disequilibrium Test(TDT), in addition to polymerase chain reaction and RFLP technique were used in 157 trios with Tourette syndrome (TS) and 120 controls. A semi-structured "Schedule for Tourette and other behavioral syndrome" was used in family history-collecting. Both the criteria of "Diagnostic and Statistical Manual of Mental Disorders"(DSM-IV) and that of Tourette syndrome association (TSA) were used in the diagnosis of Tourette syndrome and related disorders. RESULTS: The association between T102C polymorphism in 5HT2A and Tourette syndrome comorbided with obsessive compulsive disorder (OCD) was found by genotype-wise analysis (chi(2)=8.38,P=0.004) and allele-wise analysis (chi(2)=4.84,P=0.028), which was further confirmed by TDT analysis (chi(2)=5.12,P=0.02). No evidence of association or transmission disequilibrium between 102T/C polymorphism in 5HT2A and this disease in pure TS and total TS sample was found. CONCLUSION: 102T/C polymorphism in 5HT2A is exclusively associated with Tourette syndrome comorbided with DSM-IV OCD, which may constitute an independent subtype of Tourette syndrome.