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Updated: Jun 29, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Chromosome 9: linkage for borderline personality disorder features
Marijn A Distel1, Jouke-Jan Hottenga, Timothy J Trull
1Department of Biological Psychology, VU University Amsterdam, Amsterdam, The Netherlands. ma.distel@psy.vu.nl
This study identified chromosome 9 as a key region for genes influencing borderline personality disorder (BPD) features. It
Area of Science:
- Psychiatric Genetics
- Behavioral Genetics
- Human Genetics
Background:
- Borderline personality disorder (BPD) features exhibit significant heritability, estimated at 42% in prior twin studies.
- The specific genomic regions influencing BPD manifestation remain largely unidentified.
- No genome-wide linkage studies have previously investigated the genetic architecture of BPD features.
Purpose of the Study:
- To conduct the first genome-wide linkage study for borderline personality disorder (BPD) features.
- To identify specific genomic regions (quantitative trait loci) associated with BPD.
- To advance understanding of the genetic etiology of BPD.
Main Methods:
- A family-based linkage study design was employed.
- Data were sourced from the Netherlands Twin Register, including 711 sibling pairs and 561 parents.
- Genotype and phenotype data for BPD features (quantitative scale) were analyzed using Merlin regression.
Main Results:
- Significant evidence for linkage was detected on chromosomes 1, 4, 9, and 18.
- The most prominent linkage peak was observed on chromosome 9p at marker D9S286.
- A logarithm of odds (LOD) score of 3.548 (empirical P=0.0001) was obtained for the chromosome 9 linkage peak.
Conclusions:
- This study represents the first linkage analysis of borderline personality disorder (BPD) features.
- Chromosome 9 emerges as the most promising candidate region for genes influencing BPD.
- Further association studies are recommended to pinpoint specific genes within the identified linkage regions, potentially informing future BPD treatment strategies.
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