摘要
目的 研究 5 -羟色胺受体 10 2 T/ C多态性是否与 Tourette综合征 (TS)相关联。方法 对15 7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 RFL P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10 2 T/ C多态性的关联分析。结果 合并 OCD的 TS与该位点的基因型 10 2 C/ C(χ2 =8.38,P=0 .0 0 4)及等位基因 10 2 C(χ2 =4.84,P=0 .0 2 8)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 》诊断标准的 OCD的 TS与该位点存在关联或连锁不平衡 (χ2 =5 .12 ,P=0 .0 2 ) ,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 10 2 T/ 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
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 Mannual 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 obcessive compulsive disorder (OCD) was found by genotype wise analysis ( χ 2 =8 38, P =0 004) and allele wise anslysis ( χ 2 =4 84, P =0 028), which was further confirmed by TDT analysis ( χ 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.
出处
《中华医学遗传学杂志》
CAS
CSCD
2001年第1期11-13,共3页
Chinese Journal of Medical Genetics
基金
国家自然科学基金!(39970 2 71 )
英国 Wellcome Trust基金!(PAGRACA)
关键词
TOURETTE综合征
强迫症
5-HT102T/C多态性
传递不平衡检验
Tourette syndrome
obsessive compulsive disorder
serotonin receptor 2A 102T/C polymorphism
transmission disequilibium test* Supported by the National Natural Science Foundation of China (Proj.No.39970271) and United Kingdom Wellcome Trus8
