目的探索童年期创伤、5-羟色胺转运体（5-HTT）基因多态性及其交互作用对边缘型人格障碍（BPD）形成的影响。方法对107例BPD患者、91例非BPD患者（均排除精神分裂症、双相情感障碍,作为疾病对照组）、112名健康对照者进行病例对照研究，通过一般情况问卷、边缘型人格障碍诊断访谈（DIB-R）及童年期创伤问卷调查其临床特征及童年期创伤暴露情况。采用PCR技术对3组受试者进行5-HTT基因多态性分型。结果与健康对照组相比，BPD组与疾病对照组患者存在显著的不良童年创伤暴露经历（P<0.05），而BPD组与疾病对照组差异无统计学意义（P>0.05）。与健康对照组及疾病对照组相比，BPD组的5-HTTLPR（S’）等位基因频率（92.5%）显著升高（P<0.05），且5-HTTLPR（S’/S’）基因型（85.0%）显著高于疾病对照组（P<0.05）； 疾病对照组与健康对照组的5-HTTLPR的等位基因频率及基因型分布比较，差异均无统计学意义（P>0.05）。暴露于任意创伤、躯体虐待、情感虐待时，5-HTTLPR（S’/S’）基因型携带者中BPD构成比显著高于5-HTTLPR（L’/L’）及5-HTTLPR（L’/S’）型携带者（P<0.05）。结论童年早期创伤及5-HTTLPR（S’）等位基因可能是BPD发生的重要影响因素。

ObjectiveTo investigate the effects of childhood trauma, polymorphism of 5-hydroxytryptamine transporter (5-HTT), and their interaction on the development of borderline personality disorder (BPD).MethodsThe case-control study was conducted for 107 BPD patients, 91 non-BPD patients (schizophrenia and bipolar disorder were excluded), as well as 112 healthy controls. Clinical characteristics and the exposure of childhood trauma of them were investigated by questionnaires of general situation and childhood trauma and Revised Diagnostic Interview for Borderlines (DIB-R). Genotypes of 5-HTT were detected by PCR.ResultsCompared with the healthy control group, negative exposure experience of childhood trauma of the BPD group and non-BPD group was significant (P<0.05). The difference between the BPD group and non-BPD group was not statistically significant (P>0.05). Compared with the healthy control group and non-BPD group, the frequency of allele 5-HTTLPR (S’) (92.5%) of the BPD group remarkably increased (P<0.05) and the frequency of genotype 5-HTTLPR (S’/S’) (85.0%) was remarkably higher than that of the non-BPD group (P<0.05). The differences of the frequency of allele 5-HTTLPR and distribution of genotypes between the non-BPD group and healthy control group were not statistically significant (P>0.05). For exposure to any types of trauma, physical abuse, and emotional abuse, the incidence of BPD of patients carrying 5-HTTLPR (S’/S’) was significantly higher than that of patients carrying 5-HTTLPR (L’/L’) and 5-HTTLPR (L’/S’)(P<0.05).ConclusionChildhood trauma and allele 5-HTTLPR (S’) may be important factors that affect the incidence of BPD.