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Review
. 2014 Mar:40:6-19.
doi: 10.1016/j.neubiorev.2014.01.003. Epub 2014 Jan 20.

Genetics of borderline personality disorder: systematic review and proposal of an integrative model

Ali Amad  1 , Nicolas Ramoz  2 , Pierre Thomas  3 , Renaud Jardri  3 , Philip Gorwood  4
Affiliations
Review

Genetics of borderline personality disorder: systematic review and proposal of an integrative model

Ali Amad et al. Neurosci Biobehav Rev. 2014 Mar.

Abstract

Borderline personality disorder (BPD) is one of the most common mental disorders and is characterized by a pervasive pattern of emotional lability, impulsivity, interpersonal difficulties, identity disturbances, and disturbed cognition. Here, we performed a systematic review of the literature concerning the genetics of BPD, including familial and twin studies, association studies, and gene-environment interaction studies. Moreover, meta-analyses were performed when at least two case-control studies testing the same polymorphism were available. For each gene variant, a pooled odds ratio (OR) was calculated using fixed or random effects models. Familial and twin studies largely support the potential role of a genetic vulnerability at the root of BPD, with an estimated heritability of approximately 40%. Moreover, there is evidence for both gene-environment interactions and correlations. However, association studies for BPD are sparse, making it difficult to draw clear conclusions. According to our meta-analysis, no significant associations were found for the serotonin transporter gene, the tryptophan hydroxylase 1 gene, or the serotonin 1B receptor gene. We hypothesize that such a discrepancy (negative association studies but high heritability of the disorder) could be understandable through a paradigm shift, in which "plasticity" genes (rather than "vulnerability" genes) would be involved. Such a framework postulates a balance between positive and negative events, which interact with plasticity genes in the genesis of BPD.

Keywords: Borderline personality disorder; Genetics; Gene–environment interaction; Plasticity genes.

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