DRD2和DAT基因启动子区CpG岛甲基化状态与双相情感障碍的关联研究

目的探讨多巴胺受体D2型(DRD2)和多巴胺转运体(DAT)基因启动子区CpG岛甲基化状态与双相情感障碍的关联。方法运用甲基化特异性PCR和直接测序法对103例双相情感障碍患者(病例组)和100例健康体检者(对照组)DRD2和DAT基因启动子区甲基化状态进行检测,分析两组DRD2和DAT基因甲基化状态差异。结果双相情感障碍患者和正常人DRD2和DAT基因启动子区甲基化阳性率差异无统计学意义(χ2分别=0.63、0.35,P均>0.05);两组间DRD2和DAT基因启动子区甲基化率差异无统计学意义(t分别=1.54、1.52,P均>0.05)。双相情感障碍患者DRD2基因启动子区CpG岛内位点甲基化率在性别、年龄、家族史和临床分型中之间差异无统计学意义(t分别=0.66、1.09、1.65、1.67,P均>0.05);DAT基因启动子区CpG岛内位点甲基化率在性别、年龄、家族史和临床分型中之间差异无统计学意义(t分别=1.09、1.35、1.15、0.62,P均>0.05)。结论 DRD2和DAT基因启动子区CpG岛甲基化状态和双相情感障碍可能无明显关联。

Association between methylation of CpG islands in the promoter regions of DRD2,DAT genes and bipolar disorder

Objective To explore the relationship between methylation of CpG islands in the promoter regions of dopamine receptor D2 （DRD2）,dopamine transporter （DAT）genes and bipolar disorder. Methods Methylation specific polymerase chain reaction （MSP） and DNA sequencing were used to detect the methylation of DRD2, DAT in 103 bipolar disorder patients and 100 health subjects. Results There were no significant differences in the positive ratios of methylation in the promoter region of DRD2, DAT genes and the mean scores of methylation in both genes between the two groups （X2=0.63,0.35; t=1.54,1.52;P〉0.05）. There were no significant differences in different sex,age,family history and clinical stage in BP patients （t=0.66,1.09,1.65,1.67; 1.09,1.35,1.15,0.62;P〉0.05）. Conclusions Methylation in the promoter regions of DRD/, DAT genes probably has no association with bipolar disorder.