多巴胺受体D2型基因启动区多态性与精神分裂症关联研究

目的探讨湖北武汉地区汉族人群中多巴胺受体D2型基因(dopamine receptor D2, DRD2)启动区-141位点胞嘧啶插入/缺失多态性与精神分裂症的关联关系.方法应用聚合酶链反应-限制性片段长度多态性方法,对120例精神分裂症患者、100名健康对照者进行基因分型.对精神分裂症患者的 DRD2 -141位点胞嘧啶插入/缺失多态性进行了相关分析.结果 DRD2型基因启动区-141位点的等位基因、基因型频率在精神分裂症组与对照组之间的分布差异有统计学意义(P<0.05).在精神分裂症组中,-141C缺失的等位基因频率为0.11,对照组为0.18(比值比为0.55,95%可信区间为0.30～0.96,P <0.05).结论 -141位点胞嘧啶插入/缺失多态性非独立性地对精神分裂症与 DRD2基因的相关性产生修饰作用.-141位点胞嘧啶缺失可能是湖北武汉汉族精神分裂症患者的保护因素之一.

Association of schizophrenia with a promoter polymorphism in the dopamine D2 receptor gene

OBJECTIVE: To investigate the association of -141C insert/delete polymorphism with schizophrenia in Wuhan of Hubei province. METHODS: A case-control study was conducted to analyze the polymorphism in the D(2) receptor gene promoter region with schizophrenia. A total of 120 cases of schizophrenia diagnosed according to CCMD-II R criteria and 100 normal controls were recruited in the study. RESULTS: In this sample, the allele and genotype showed statistically significant differences between patients and normal controls (P<0.05).Especially, the frequency of -141C del was 11% in patients and 18% in control(OR 0.55, 95% CI 0.30-0.96; P<0.05). This allele was less common in schizophrenia than in normal controls (P<0.05). CONCLUSION: The -141C del polymorphism is associated with schizophrenia.The polymorphism may modify the association with other factors. Possibly -141C del in the DRD(2) promoter region is a strong candidate for a protective factor for this trait.