Univ. Lille, CNRS UMR 9193-PsyCHIC-SCALab, & CHU Lille, Pôle de Psychiatrie, Unité CURE, Lille F-59000, France; INSERM UMRS1266, Institute of Psychiatry and Neuroscience of Paris, France.
INSERM UMRS1266, Institute of Psychiatry and Neuroscience of Paris, France.
J Affect Disord. 2019 Apr 1;248:26-28. doi: 10.1016/j.jad.2019.01.025. Epub 2019 Jan 27.
Genes associated with the physiological response to stress in the hypothalamic-pituitary-adrenal axis are considered as good candidates for genetic research in borderline personality disorder (BPD).
In this study, five FKBP5 (a co-chaperone of the glucocorticoid receptor) SNPs (rs3800373, rs9296158, rs737054, rs1360780, rs9470080) were genotyped in a sample of 101 unrelated Caucasian patients with BPD and 111 ethnically matched healthy controls. The interaction between FKBP5 polymorphisms and childhood trauma was also tested.
All FKBP5 polymorphisms genotyped showed significant associations with BPD. A main effect of rs9470080 (p = 0.01) and gene x environment (physical abuse) interaction (p = 0.01) was found. A gene x environment (emotional abuse) interaction was also found for rs3800373 (p = 0.03). However, these interactions did not remain significant after multiple testing corrections.
In this study, only 5 genetic variants were tested and thus tagging of the FKBP5 gene was incomplete. Moreover, the sample size is moderate.
BPD is associated with FKBP5 polymorphisms and several types of childhood abuse may modulate the effect between FKBP5 SNPs and this disorder.
与下丘脑-垂体-肾上腺轴对压力的生理反应相关的基因被认为是边缘型人格障碍（BPD）遗传研究的候选基因。
在这项研究中，对 101 名无血缘关系的白种人 BPD 患者和 111 名种族匹配的健康对照者样本进行了 FKBP5（糖皮质激素受体共伴侣）5 个 SNP（rs3800373、rs9296158、rs737054、rs1360780、rs9470080）的基因分型，并测试了 FKBP5 多态性与儿童创伤之间的相互作用。
所有 FKBP5 多态性与 BPD 均显著相关。rs9470080（p=0.01）和基因 x 环境（躯体虐待）相互作用（p=0.01）存在主要效应。rs3800373 也存在基因 x 环境（情感虐待）相互作用（p=0.03）。然而，在多重检验校正后，这些相互作用不再具有统计学意义。
在本研究中，仅检测了 5 个遗传变异，因此 FKBP5 基因的标记不完全。此外，样本量中等。
BPD 与 FKBP5 多态性有关，多种类型的儿童虐待可能调节 FKBP5 SNP 与该疾病之间的关系。
