阿立哌唑对儿童期抽动症疗效与多巴胺D3受体基因多态性的关联性

Association of polymorphisms in dopamine D3 receptor gene with Childhood tourette syndrome and efficacy of aripiprazole

目的 探讨阿立哌唑（aripiprazole）治疗儿童期抽动症疗效与多巴胺D3受体（DRD3）第一外显子Ser9Gly多态性关联性.方法 158例符合ICD-10抽动症的诊断患者作为研究对象,采用阿立哌唑治疗8周,用耶鲁抽动症严重程度量表（Yale global tic severity scale,YGTSS）评定疗效.应用聚合酶链反应-限制性片段长度的多态性技术对抽动症患儿和健康患儿对照（n=187）的基因进行遗传关联分析.结果 ①经过对DRD3基因的Ser9Gly基因型及等位基因频率比较,病例组和对照组之间差异均无统计学意义（P＞0.05）.②病例组中有效组与无效组DRD3 Ser9Gly基因型（Ser/Ser：40 vs 17;Ser/Gly：52 vs 28;Gly/Gly：7 vs 14）及等位基因频率（Ser：132 vs 62;Gly：66 vs 56）比较,均差异有统计学意义（P＜0.05）.③病例组一过性抽动障碍、慢性抽动和发声与多种运动联合抽动障碍（TS）三种类型的DRD3 Ser9Gly基因型及等位基因频率比较,均差异无统计学意义（P＞0.05）.结论 多巴胺D3受体基因多态性与阿立哌唑疗效有关联性,与抽动症分型无关联性.

Objective To investigate the association of polymorphisms in dopamine D3 receptor （DRD3） gene exon 1 Ser9Gly with childhood tourette syndrome and efficacy of aripiprazole in Chinese Han population.Methods Polymorphisms of Ser9Gly in DRD3 gene was genotyped by using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism （PCR-RFLP） in 158 tourette syndrome patients （study group） and 187 healthy controls （control group）.Patients in study group were assessed with Yale global tic severity scale（YGTSS） at baseline and at the end of the 8th week of treatment to evaluate the efficacy of aripiprazole.Results （1） There were no significant differences in genotypic frequency and allelic frequency of Ser9Gly in DRD3 gene between study group and control group （P〉0.05）.（2） Significant difference was found in frequency of Ser9Gly in DRD3 gene between effective and ineffective groups （genotype：Ser/Ser 40 vs 17;Ser/Gly 52 vs 28;Gly/Gly 7 vs 14;alle：Ser 132 vs 62;Gly 66 vs 56）（P〈0.05）.（3） There were no significant differences in distribution of genotypes and alleles of Ser9Gly among three-type of tourette syndrome （P〉0.05）.Conclusion The polymorphisms of Ser9Gly in DRD3 gene are associated with the efficacy of aripiprazole.