Central Institute of Mental Health, Department of Genetic Epidemiology in Psychiatry, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Central Institute of Mental Health, Center for Innovative Psychiatry and Psychotherapy, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Transl Psychiatry. 2022 Apr 11;12(1):153. doi: 10.1038/s41398-022-01912-2.
Both environmental (e.g. interpersonal traumatization during childhood and adolescence) and genetic factors may contribute to the development of Borderline Personality Disorder (BPD). Twin studies assessing borderline personality symptoms/features in the general population indicate that genetic factors underlying these symptoms/features are shared in part with the personality traits of the Five Factor Model (FFM) of personality-the "Big Five". In the present study, the genetic overlap of BPD with the Big Five -Openness to Experience, Conscientiousness, Extraversion, Agreeableness, and Neuroticism- was assessed. Linkage disequilibrium score regression was used to calculate genetic correlations between a genome-wide association study (GWAS) in central European populations on BPD (N = 2543) and GWAS on the Big Five (N = 76,551-122,886, Neuroticism N = 390,278). Polygenic scores (PGS) were calculated to test the association of the genetic disposition for the personality traits with BPD case-control status. Significant positive genetic correlations of BPD were found with Neuroticism (rg = 0.34, p = 6.3*10) and Openness (rg = 0.24, p = 0.036), but not with the other personality traits (all | rg | <0.14, all p > 0.30). A cluster and item-level analysis showed positive genetic correlations of BPD with the Neuroticism clusters "Depressed Affect" and "Worry", and with a broad range of Neuroticism items (N = 348,219-376,352). PGS analyses confirmed the genetic correlations, and found an independent contribution of the personality traits to BPD risk. The observed associations indicate a partially shared genetic background of BPD and the personality traits Neuroticism and Openness. Larger GWAS of BPD and the "Big Five" are needed to further explore the role of personality traits in the etiology of BPD.
环境因素（例如儿童和青少年时期的人际创伤）和遗传因素都可能导致边缘型人格障碍（BPD）的发展。评估普通人群中边缘型人格症状/特征的双胞胎研究表明，这些症状/特征的遗传基础与人格特质的五因素模型（FFM）的部分特征共享-“大五”。在本研究中，评估了 BPD 与“大五”-开放性、尽责性、外向性、宜人性和神经质-之间的遗传重叠。连锁不平衡评分回归用于计算中欧人群中 BPD 的全基因组关联研究（GWAS）（N=2543）与大五 GWAS 之间的遗传相关性（N=76551-122886，神经质 N=390278）。多基因评分（PGS）用于测试人格特质的遗传倾向与 BPD 病例对照状态的关联。BPD 与神经质（rg=0.34，p=6.3*10）和开放性（rg=0.24，p=0.036）呈显著正遗传相关，但与其他人格特质无关（所有|rg|<0.14，所有 p>0.30）。聚类和项目水平分析显示，BPD 与神经质的“抑郁情绪”和“担忧”集群以及广泛的神经质项目（N=348219-376352）呈正遗传相关。PGS 分析证实了遗传相关性，并发现人格特质对 BPD 风险有独立贡献。观察到的关联表明 BPD 和神经质和开放性等人格特质具有部分共同的遗传背景。需要进行更大规模的 BPD 和“大五”GWAS，以进一步探索人格特质在 BPD 发病机制中的作用。
