摘要/Abstract
摘要： 目的·探讨双相障碍患者攻击行为与多巴胺D4受体（dopamine D4 receptor，DRD4）基因第3外显子（exon Ⅲ）48 bp可变数目串联重复序列（variable number tandem repeat，VNTR）多态性及人格特征之间的关系。方法·选取2015 年1月—2018年12月在上海市长宁区精神卫生中心、上海市静安区精神卫生中心、上海市徐汇区精神卫生中心和上海健康医学院附属嘉定区中心医院就诊的双相障碍患者共173例，根据修订版外显攻击行为量表（Modified Overt Aggression Scale，MOAS）评分将其分为攻击组（研究组）和非攻击组（对照组）。分别进行一般情况调查、气质性格问卷（Temperature and Character Inventory，TCI）测定；采用聚合酶链反应 - 限制性片断长度多态性技术检测DRD4 exon Ⅲ 48 bp VNTR多态性位点。用SHEsis软件进行基因型Hardy-Weinberg遗传平衡度检验及组间基因型频率的差异分析，用χ2检验和t检验分析双相障碍患者攻击行为与DRD4基因多态性及人格特征之间的关系。结果·研究组和对照组一般情况调查结果间差异无统计学意义（P>0.05）。共检测到DRD4 exon Ⅲ 48 bp VNTR的6种等位基因和9种基因型，2组最常见的是4次重复等位基因。2组间DRD4基因的基因型及等位基因的频率分布差异有统计学意义（P0.040，P0.018）。研究组寻求新奇、伤害避免维度评分高于对照组（P0.026，P0.000），合作性、自我定向维度评分低于对照组（均P0.000）。研究组携带长重复等位基因的患者寻求新奇、伤害避免维度评分高于携带短重复等位基因的患者（P0.000，P0.006），合作性维度评分低于携带短重复等位基因的患者（P0.038）。结论·双相障碍患者攻击行为与DRD4 exon Ⅲ 48 bp VNTR之间可能存在关联。双相障碍攻击行为患者具有冲动、寻求刺激、探索、害怕不确定、报复心强、自私自利等人格特征，携带长重复等位基因患者人格异常更显著。
关键词: 双相障碍, 攻击行为, 多巴胺D4受体, 人格特征, 关联分析
Abstract:
Objective · To explore the relationship between aggressive behavior, dopamine receptor D4 (DRD4) exon Ⅲ 48 bp variable number tandem repeat (VNTR) and personality characteristics in patients with bipolar disorder. Methods · January 2015 to December 2018, 173 patients with bipolar disorder were selected Shanghai Changning Mental Health Center, Shanghai Jingan Mental Health Center, Shanghai Xuhui Mental Health Center, and Shanghai Jiading Central Hospital. According to the score of Modified Overt Aggression scale (MOAS), 173 patients were divided into aggressive behavior group (research group) and non-aggressive behavior group (control group). General survey and the temperament and personality questionnaire (Temperature and Character Inventory, TCI) were carried out, respectively. The polymorphism of DRD4 gene were genotypedthe polymerase chain reaction-restriction fragment length polymorphism method. Genetic equilibrium test of genotype Hardy-Weinberg and the difference of genotype frequency between the two groups were analyzedusing SHEsis software. The relationship between aggression behavior and DRD4 gene polymorphism and personality traits in bipolar disorder patients was analyzedχ2 test and t test. Results · There was no significant difference in the general data between research group and control group (P>0.05). Six alleles and nine genotypes of DRD4 exon Ⅲ 48 bp VNTR were detected. The most common alleles in the two groups were four repeat alleles. There were statistical differences in the frequency distribution of genotypes and alleles of DRD4 exon Ⅲ 48 bp VNTR between the two groups (P0.040, P0.018). The scores of novelty seeking and harm avoidance in the research group were higher than those in the control group (P0.026, P0.000), while the scores of cooperativeness and self-directedness were lower than those in the control group (both P0.000). Patients with long repeat alleles had significantly higher scores in novelty seeking and harm avoidance, and lower scores in cooperativeness, compared with patients with short repeat alleles (P0.000, P0.006, P0.038). Conclusion · Aggressive behavior in patients with bipolar disorder may be associated with DRD4 exon Ⅲ 48 bp VNTR. In bipolar disorder, patients with aggressive behavior have unique personality characteristics in impulsiving, novelty-seeking, exploring, being afraid of uncertainty, revengeful, behaving himself and so on. Patients with long repeat alleles have more significant personality abnormalities.
Key words: bipolar disorder, aggressive behavior, dopamine receptor D4 (DRD4), personality characteristics, association analysis
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