多巴胺D_3受体基因多态性与精神分裂症患者迟发性运动障碍的关联分析

Genotypic association between dopamine D_3 receptor gene and tardive dyskinesia in schizophrenia

目的 观察广州地区汉族伴或不伴迟发性运动障碍 (TD)的精神分裂症患者多巴胺D3受体 (DRD3)基因Ser 9 Gly多态性分布 ,探讨DRD3基因Ser 9 Gly多态性与TD发生的关系。方法对 1 4 0例精神分裂症患者采用不自主运动评定量表 (AIMS)进行评定 ,其中 53例伴TD ,87例不伴TD。应用聚合酶链反应和限制性内切酶长度多态性方法 ,检测 1 4 0例患者的DRD3基因Ser 9 Gly多态性 ,并对DRD3各等位基因及基因型与精神分裂症患者的TD表型进行关联分析。结果 (1 )TD组与无TD组患者基因型总体分布的差异无显著性 (χ2 =5 6 ,υ =2 ,P >0 0 5) ,等位基因频数分布的差异有显著性 (χ2 =5 1 1 ,υ =1 ,P <0 0 5)。 (2 )按性别分组后 ,在男性患者中 ,伴TD患者较不伴TD患者 1 / 1基因型和等位基因 1频率的差异有显著性 (χ2 =5 2 4 ,χ2 =5 0 6 ,P <0 0 5) ,等位基因 2的差异有显著性 (χ2 =5 0 6 ,P <0 0 5)。在女性患者中 ,DRD3各基因型及等位基因的频率的差异均无显著性 (P >0 0 5)。结论 DRD3基因Ser 9

Objective To investigate the genetic variation of the dopamine D 3 receptor (DRD3) gene as a putative risk factor for tardive dyskinesia (TD) in chronic schizophrenic patients receiving long time antipsychotic therapy Methods The recruited schizophrenic patients were assessed with the Abnormal Involuntary Movement Scale (AIMS), and divided into groups with TD ( n =53) and without TD ( n =87) according to the AIMS score The Ser 9 Gly polymorphism of DRD3 gene was determined with the polymerase chain reaction restriction fraction length polymorphism technique Results (1) 1/1 genotype and allele 1 increased significantly (χ 2=6 57, χ 2=5 30, P <0 05) while 1/2 genotype and allele 2 decreased significantly (χ 2=4 79, χ 2=5 30, P <0 05) among schizophrenia with TD compared those without (2) When stratificated according to sex, the polymorphism distribution is similar among female patients while 1/1 genotype and allele 1 increased significantly (χ 2=5 24, χ 2=5 06, P <0 05) between male schizophrenic patients with or without TD Conclusion Our findings imply that the Ser 9 Gly polymorphism of the dopamine D 3 receptor gene may contribute to the development of TD in chronic schizophrenia