Background: 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).
Methods: 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.
Results: 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.
Limitations: In this study, only 5 genetic variants were tested and thus tagging of the FKBP5 gene was incomplete. Moreover, the sample size is moderate.
Conclusion: BPD is associated with FKBP5 polymorphisms and several types of childhood abuse may modulate the effect between FKBP5 SNPs and this disorder.
Keywords: Borderline personality disorder; FKBP5; SNP; Stress axis.
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