中文摘要：

目的探讨γ-氨基丁酸A型受体β2亚基（gamma-aminobutyric acid type A receptor beta2 subunit,GABRB2）基因启动子区DNA甲基化水平与精神分裂症及其药物治疗的关系。方法纳入精神分裂症患者53例和正常对照53名,采用Mass ARRY Epi TYPER DNA甲基化分析技术检测所有受试者外周血GABRB2基因启动子区DNA甲基化水平。患者组中12例在药物治疗8周后再次检测该基因启动子区DNA甲基化水平。结果患者组与对照组外周血GABRB2基因启动子区总甲基化和各Cp G位点的甲基化水平组间差异无统计学意义（P〉0.05）。经性别分层分析,患者组男性Cp G_28位点的甲基化水平较对照组男性降低[（0.215±0.084）vs.（0.264±0.103）,P〈0.05]。治疗后患者组外周血GABRB2基因启动子区总DNA甲基化水平较治疗前降低[（0.088±0.037）vs.（0.121±0.063）,P〈0.01],治疗前后各Cp G位点甲基化水平差异无统计学意义（P〉0.05）。结论抗精神病药物治疗可降低精神分裂症患者外周血中GABRB2基因启动子区DNA甲基化水平,提示基因启动子区DNA甲基化可能参与抗精神病药物治疗的作用机制。

英文摘要：

Objective Gamma amino butyric acid（GABA） signaling pathway related genes m RNA expression and promoter methylation of GABRB2 gene in peripheral blood were investigated to explore the mechanisms involved in schizophrenia（SZ） and antipsychotics treatment.MethodsDNA was isolated from blood samples of 53 SZ patients and53 gender- and age- matched healthy controls. 12 out of 25 SZ patients were followed 8 weeks antipsychotic treatment.The quantitative GABRB2 promoter methylation was analyzed using the high-throughput mass spectrometry on matrix-assisted laser desorption/ionization time-of-flight（MALDI-TOF） mass array before and after treatment.ResultsThe GABRB2 promoter methylation pattern of case and control group was not significantly different（P〉0.05）. However, significant differences of the methylation levels of Cp G_28 in the GABRB2 promoter between two groups were found in males[（0.215±0.084） vs.（0.264±0.103）, P〈0.05]. After 8 weeks antipsychotics treatment, a significant decrease of GABRB2 promoter methylatin was detected in the patients [（0.088±0.037） vs.（0.121±0.063）, P〈0.01].ConclusionA down regulation of GABRB2 promoter methylation in blood of SZ patients after-treatment supports that GABRB2 promoter methylation in blood may be associated with the mechanisms of antipsychotics treatment in SZ.