5-羟色胺1A受体基因C（-1019）G多态性与精神分裂症的关联分析

目的:探讨云南地区汉族人群中5-羟色胺1A(5-HT1A)受体基因C(-1019)G多态性与精神分裂症的关联,及其对症状组成、前额叶执行功能的可能影响. 方法:应用阳性与阴性症状量表(PANSS)、简明精神病评定量表(BPRS)、外显攻击量表(OAS)等评定患者症状,威斯康星卡片分类测验(WCST)评定精神分裂症和正常人前额叶执行功能.142例精神分裂症患者和84名正常对照分别用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法进行基因分型. 结果:云南地区汉族人群中,5-HT1A受体基因启动子区C(-1019)G多态性在精神分裂症和正常人之间的各量表分差异有显著性(P=0.001).C(-1019)G多态性对PANSS中因子被动淡漠性社会退缩(N4)(P=0.010)、言语缺乏主动性和流畅性(N6)(P=0.004)、阴性症状总分(NT)(P=0.013)、紧张(G4)(P=0.005)、自发社交回避(G16)(P=0.013),以及BPRS中的因子4激活性(P=0.026)等条目得分的形成影响有显著性.C(-1019)G多态性与WCST各条目不相关. 结论:云南地区汉族人群中,5-HT1A受体基因启动子区C(-1019)G多态性与精神分裂症显著相关,对精神分裂症症状组成可能起一定作用,但与WCST反映的前额叶执行功能状态并无显著相关.

Correlation analysis between 5-HT1A receptor gene C(-1019) G polymorphism and schizophrenia

Objective:To investigate the correlation between 5-HT1A receptor gene C(-1019)G polymorphism and schizophrenia in Han population in Yunnan province and its possible influences on symptoms and executive functions of prefrontal cortex. Method:Positive and negative symptom scale (PANSS),brief psychiatric rating scale (BPRS) and overt aggression scale(OAS) were used to evaluate the psychiatric symptoms for schizophrenic patients,and Wisconsin card sorting test(WCST)was used to assess the executive functions of prefrontal cortex for schizophrenia and normal controls.The polymorphisms in 5-HT1A receptor gene C(-1019)G were determined with PCR-RFLP in 142 schizophrenia and 84 normal controls. Results:There was significantly statistical difference in C(-1019)G polymorphism in promoter region of 5-HT1A receptor gene between schizophrenia and normal controls in Han population in Yunnan province (P=0.001).The C(-1019)G polymorphism had significant influences on the scores of PANSS such as items of passive/apathetic social withdrawal (N4) (P=0.010),lack of spontaneity and flow of conversation (N6) (P=0.004),tension (G4) (P=0.005) and active social avoidance (G16) (P=0.013) and the total score of negative scale and the factor 4 score of BPRS (P=0.026). However,there was no significant correlation between the C(-1019)G polymorphism and every item of WCST. Conclusion:There is a significant correlation between 5-HT1A receptor gene C(-1019)G polymorphism and schizophrenia in Han population in Yunnan province,which may help to the composing of psychiatric symptoms in schizophrenia.However,the polymorphism don't relate to the executive functions of prefrontal cortex reflected by WCST.