抽动秽语综合征儿童的IL-1Ra基因多态性与执行功能  

Relationship of IL-1Ra86bp VNTR and executive function in children with Gilles de la Tourette' s syndrome

作　　者：季卫东[1,2,3] 杨闯[2] 周家秀[2] 黄晓琪[2] 姚静[2] 郭田友[2] 郭兰婷[2] 刘协和[2] 

机构地区：[1]上海市长宁精神卫生中心,上海200335 [2]四川大学华西医院心理卫生中心,成都410061 [3]上海交通大学精神神经科学和系统代谢组学研究所,上海200335

出　　处：《中国心理卫生杂志》2013年第8期629-633,共5页Chinese Mental Health Journal

基　　金：国家自然科学基金(30470624);长宁区卫生局特色专科建设项目

摘　　要：目的:探讨白介素1受体拮抗剂第2内含子86bp可重复多态性(IL-1Ra86bp VNTR)与汉族抽动秽语综合征儿童(TS)及执行功能的关系。方法:选取符合美国精神疾病诊断统计手册第4版TS诊断标准的儿童112例,健康对照71例。采用聚合酶链反应(PCR)等位基因分型技术对所有对象的IL-1Ra86bp多态位点进行测定,分析该位点与TS疾病的关联,同时采用Stroop色词测验(Stroop test)测定研究对象的执行功能。结果:全部112例TS组和54例单纯TS组的IL-1Ra86bp位点基因型频率(54.0%,56.0%vs.55.1%)和等位基因频率(77.0%,78.0%vs.77.0%)与对照组相比差异无统计学意义(均P>0.05)。48例TS共病注意缺陷多动障碍(ADHD)组的IL-1Ra86bp长(L)位点基因型频率(79.0%vs.55.1%)和等位基因频率(90.0%vs.77.0%)明显高于对照组(均P<0.05)。TS共病ADHD组L/L基因型的儿童C错误数多于对照组[(5.8±14.8)vs.(2.8±12.4),P<0.05]。结论:IL-1Ra86bp基因多态性与共病ADHD的抽动秽语综合征可能存在关联,携带L/L基因型的抽动秽语综合征儿童执行功能可能较差。Objective： To investigate the association between IL-1Ra gene polymorphism and Gilles de la Tourette＇s syndrome （TS）. Methods： Totally 112 children who were diagnosed as Tourette＇s syndrome according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders,Fourth Edition （DSM-IV） and 71 healthy children were selected.By using Amplification Refractory Mutation System （ARMS） Polymerase Chain Reaction （PCR） genotyping assay method,a polymorphism of IL-1Ra gene was genotyped.The correlation between positive association of polymorphism of IL-1Ra gene in TS and the executive function in patients with TS was also analyzed. Results： Compared with control group,there was no significant difference in genotype frequency （54.0%,56.0% vs.55.1%） and allele frequency （77.0%,78.0% vs.77.0%） in 112 TS groups and 54 alone-TS groups.However,the frequency of genotype （79.0% vs.55.1%） and allele （90.0% vs.77.0%） of L loci in children with comorbid TS and ADHD was higher than those in the controls （Ps〈0.05）.The errors in TS children with L/L genotype of IL-1Ra gene polymorphism were more than those in the control group （[（5.8±14.8） vs.（2.8±12.4）,P〈0.05]. Conclusion： It suggests that the polymorphism of IL-1Ra gene may be associated with TS comorbid ADHD,which may play an important role to make the defect of executive function in children with TS.

关 键 词：抽动秽语综合征 白介素1受体拮抗剂 执行功能 关联分析 

分 类 号：R748[医药卫生—神经病学与精神病学] R749.94[医药卫生—临床医学]