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European Archives of Psychiatry and Clinical Neuroscience

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17.07.2015 | Original Paper

The role of hypothalamus–pituitary–adrenal genes and childhood trauma in borderline personality disorder

verfasst von: Ana Martín-Blanco, Marc Ferrer, Joaquim Soler, Maria Jesús Arranz, Daniel Vega, Natalia Calvo, Matilde Elices, Cristina Sanchez-Mora, Iris García-Martinez, Juliana Salazar, Cristina Carmona, Joana Bauzà, Mónica Prat, Víctor Pérez, Juan C. Pascual

Erschienen in: European Archives of Psychiatry and Clinical Neuroscience | Ausgabe 4/2016

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Abstract

Current knowledge suggests that borderline personality disorder (BPD) results from the interaction between genetic and environmental factors. Research has mainly focused on monoaminergic genetic variants and their modulation by traumatic events, especially those occurring during childhood. However, to the best of our knowledge, there are no studies on the genetics of hypothalamus–pituitary–adrenal (HPA) axis, despite its vulnerability to early stress and its involvement in BPD pathogenesis. The aim of this study was to investigate the contribution of genetic variants in the HPA axis and to explore the modulating effect of childhood trauma in a large sample of BPD patients and controls. DNA was obtained from a sample of 481 subjects with BPD and 442 controls. Case–control differences in allelic frequencies of 47 polymorphisms in 10 HPA axis genes were analysed. Modulation of genetic associations by the presence of childhood trauma was also investigated by dividing the sample into three groups: BPD with trauma, BPD without trauma and controls. Two FKBP5 polymorphisms (rs4713902-C and rs9470079-A) showed significant associations with BPD. There were also associations between BPD and haplotype combinations of the genes FKBP5 and CRHR1. Two FKBP5 alleles (rs3798347-T and rs10947563-A) were more frequent in BPD subjects with history of physical abuse and emotional neglect and two CRHR2 variants (rs4722999-C and rs12701020-C) in BPD subjects with sexual and physical abuse. Our findings suggest a contribution of HPA axis genetic variants to BPD pathogenesis and reinforce the hypothesis of the modulating effect of childhood trauma in the development of this disorder.

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Titel: The role of hypothalamus–pituitary–adrenal genes and childhood trauma in borderline personality disorder
verfasst von: Ana Martín-Blanco
Marc Ferrer
Joaquim Soler
Maria Jesús Arranz
Daniel Vega
Natalia Calvo
Matilde Elices
Cristina Sanchez-Mora
Iris García-Martinez
Juliana Salazar
Cristina Carmona
Joana Bauzà
Mónica Prat
Víctor Pérez
Juan C. Pascual
Publikationsdatum: 17.07.2015
Verlag: Springer Berlin Heidelberg
Erschienen in: European Archives of Psychiatry and Clinical Neuroscience / Ausgabe 4/2016
Print ISSN: 0940-1334
Elektronische ISSN: 1433-8491
DOI: https://doi.org/10.1007/s00406-015-0612-2

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The role of hypothalamus–pituitary–adrenal genes and childhood trauma in borderline personality disorder

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