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

Amad, Ali; Ramoz, Nicolás; Thomas, Pierre; Jardri, Renaud; Gorwood, Philip

doi:10.1016/j.neubiorev.2014.01.003

Cited by 164 publications

(136 citation statements)

References 130 publications

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“…Although a recent meta-analysis revealed an estimated heritability of approximately 40% on the basis of familial and twin studies, association studies demonstrated no significant relationship for the serotonin transporter gene, the tryptophan hydrolase 1 gene, or the serotonin 1 B receptor gene (20). Against the background of this discrepancy, the authors suggested that both positive and negative life events may interact with "plasticity" genes rather than the "vulnerability" genes that contribute to the pathogenesis of BPD (20).…”

Section: Geneticsmentioning

confidence: 96%

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Neurobiological Findings in Youth with Borderline Personality Disorder

Brunner

Henze

Richter

et al. 2014

Scandinavian Journal of Child and Adolescent Psychiatry and Psychology

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This review summarizes recent neurobiological research into youth with borderline personality disorder (BPD) to better delineate the biological factors involved in the development of this disorder. Psychobiological studies when BPD first becomes manifest are of particular interest, because there are fewer confounding factors (e.g., duration of illness, drug abuse, medication, other therapeutic interventions) at this time. This article focuses on recent findings in the field of neuroimaging, neuropsychology, neuroendocrinology, genetics, and pain perception, and it aims to integrate these findings in a developmental psychopathology model of BPD. In studies of clinical samples of adults with BPD, structural imaging studies revealed abnormalities predominantly in the frontolimbic areas. Disturbances in emotional information processingparticularly involving negative stimuli-may mediate affective dysregulation as a core feature of BPD. Genetic studies could reveal that the stability of BPD traits in youth is largely influenced by a combination of genetic and non-shared environmental factors. Hyporesponsiveness to a laboratory stressor indicates an enduring alteration of the hypothalamicpituitary-adrenal axis. Findings of a higher pain threshold indicate that pain processing is already disturbed during the early stages of BPD, which could contribute to the initiation or maintenance of self-injurious behavior. All biological factors, together with environmental risk factors, may contribute to the core symptoms of BPD: severe emotional and behavioral dysregulation. Further research should investigate the development of BPD in youth by using longitudinal designs to determine whether the neurobiological factors are a cause, an effect, or an epiphenomenon of BPD.

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Section: Geneticsmentioning

confidence: 96%

“…Against the background of this discrepancy, the authors suggested that both positive and negative life events may interact with "plasticity" genes rather than the "vulnerability" genes that contribute to the pathogenesis of BPD (20).…”

Section: Geneticsmentioning

confidence: 99%

Neurobiological Findings in Youth with Borderline Personality Disorder

Brunner

Henze

Richter

et al. 2014

Scandinavian Journal of Child and Adolescent Psychiatry and Psychology

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“…The disorder affects *0.5-5.9% of the general population [38][39][40] and estimates of heritability range from 35% to 69% [27,32,[41][42][43]. A well-written review [44] has summarized the familial and twin designs, gene association investigations, and gene-environment interactions in this disorder.…”

Section: Borderline Personality Disordermentioning

confidence: 99%

“…Tryptophan hydroxylase (TPH) functions in 5-HT synthesis from the amino-acid tryptophan. Most studies have shown that the two isoforms of TPH (TPH-1 and TPH-2) are associated with borderline personality disorder, such as the suicidal behavior component [44].…”

Section: Borderline Personality Disordermentioning

confidence: 99%

“…As noted above, COMT is an enzyme that breaks down dopamine, while brain-derived neurotrophic factor (BDNF) is involved in neurogenesis, synaptogenesis, and serotonin regulation. Both the COMT Val 158 Val and BDNF Val 66 Val polymorphisms might play a role in mediating the influence of childhood maltreatment on the pathology of borderline personality disorder [44]. These genes, as well as 5-HTT, are pronounced along with their polymorphisms in borderline personality disorder, bipolar disorder, unipolar depression, and post-traumatic stress disorder [52], indicating that these pathologies share similar genetic backgrounds.…”

Section: Borderline Personality Disordermentioning

confidence: 99%

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Genetic and Neuroimaging Features of Personality Disorders: State of the Art

Fan

Shen

et al. 2016

Neurosci. Bull.

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Personality disorders often act as a common denominator for many psychiatric problems, and studies on personality disorders contribute to the etiopathology, diagnosis, and treatment of many mental disorders. In recent years, increasing evidence from various studies has shown distinctive features of personality disorders, and that from genetic and neuroimaging studies has been especially valuable. Genetic studies primarily target the genes encoding neurotransmitters and enzymes in the serotoninergic and dopaminergic systems, and neuroimaging studies mainly focus on the frontal and temporal lobes as well as the limbic-paralimbic system in patients with personality disorders. Although some studies have suffered due to unclear diagnoses of personality disorders and some have included few patients for a given personality disorder, great opportunities remain for investigators to launch new ideas and technologies in the field.

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Genetics of Personality Disorders

South

Reichborn‐Kjennerud

2017

Encyclopedia of Life Sciences

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Evidence from family, adoption and twin studies indicates that genetic factors significantly influence liability to personality disorders (PDs) and contribute to the comorbidity among PDs and between PDs and other psychiatric disorders. Molecular genetic studies aimed at identifying specific genes have been applied, to a limited extent, to personality. Significant associations have, however, been found with candidate genes related to neurotransmitter pathways, especially in the dopaminergic or serotonergic systems. Both quantitative and molecular genetic studies indicate that gene–environment correlation and interaction play a role in the aetiology of PDs. Methods like genome‐wide association studies, analyses of copy‐number variation, studies of rare genetic variants and epigenetic methods are only recently being applied to PDs, but will hopefully contribute to our future understanding of the causal mechanisms involved. Key Concepts Personality disorders are categorical concepts in the Diagnostic and Statistical Manual of Mental Disorders, but an emerging model conceptualises personality pathology along 5 domains that subsume 25 lower order facets. Personality disorders are significantly influenced by genetic factors. Comorbidity between personality disorders and between personality disorders and other mental disorders are significantly influenced by shared genetic liability. Candidate gene association studies indicate significant relationships between personality disorders and genes related to neurotransmitter pathways, especially in the dopaminergic or serotonergic systems. Both quantitative and molecular genetic studies suggest that gene–environment interplay is involved in the aetiology of personality disorders.

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

Cited by 164 publications

References 130 publications

Neurobiological Findings in Youth with Borderline Personality Disorder

Neurobiological Findings in Youth with Borderline Personality Disorder

Genetic and Neuroimaging Features of Personality Disorders: State of the Art

Genetics of Personality Disorders

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