TY - UNPB
T1 - Genome-wide association study of borderline personality disorder identifies 11 loci and highlights shared risk with mental and somatic disorders
AU - Streit, Fabian
AU - Awasthi, Swapnil
AU - Hall, Alisha Sm
AU - Braun, Alice
AU - Niarchou, Maria
AU - Marouli, Eirini
AU - Babajide, Oladapo
AU - Frank, Josef
AU - Zillich, Lea
AU - Callies, Carolin M
AU - Avetyan, Diana
AU - Zillich, Eric
AU - Naamanka, Joonas
AU - Gonzalez, Jean
AU - Harder, Arvid
AU - Lu, Yi
AU - Aherrahrou, Zouhair
AU - Ahmad, Zain-Ul-Abideen
AU - Ask, Helga
AU - Batzler, Anthony
AU - Benros, Michael E
AU - Brand-de Wilde, Odette M
AU - Brunak, Søren
AU - Bruun, Mie T
AU - Christoffersen, Lea An
AU - Colodro-Conde, Lucía
AU - Coombes, Brandon J
AU - Corfield, Elizabeth C
AU - Dahmen, Norbert
AU - Didriksen, Maria
AU - Dinh, Khoa M
AU - Djurovic, Srdjan
AU - Dowsett, Joseph
AU - Drange, Ole Kristian
AU - Dukal, Helene
AU - Edelmann, Susanne
AU - Erikstrup, Christian
AU - Espinola, Mariana K
AU - Hansen, Thomas F
AU - Hjalgrim, Henrik
AU - Aagaard, Bitten
AU - Jorgensen, Anders
AU - Mikkelsen, Christina
AU - Ostrowski, Sisse R
AU - Pedersen, Ole Bv
AU - Schwinn, Michael
AU - Sørensen, Erik
AU - Træholt, Jacob
AU - Ullum, Henrik
AU - Werge, Thomas
AU - DBDS Genomic Consortium
PY - 2025/8/12
Y1 - 2025/8/12
N2 - We conducted the largest genome-wide meta-analysis of borderline personality disorder (BPD) to date, with a discovery sample of 12,339 cases and 1,041,717 controls, and a replication study of 685 cases and 107,750 controls (all participants of European ancestry). We identified 11 independent associated genomic loci, and nine risk genes in the gene-based analysis. We observed a single-nucleotide polymorphism (SNP) heritability of 17.3% and derived polygenic scores (PGS) predicted 4.6% of the phenotypic variance in BPD on the liability scale. BPD showed the strongest positive genetic correlations with GWAS of posttraumatic stress disorder, depression, attention deficit hyperactivity disorder, antisocial behavior, and measures of suicide and self-harm. Phenome-wide association analyses using BPD-PGS confirmed these associations and additionally revealed associations with general medical conditions including obstructive pulmonary disease and diabetes. The present analyses highlight BPD as a polygenic disorder, with the genetic risk showing substantial overlap with psychiatric and physical health conditions.
AB - We conducted the largest genome-wide meta-analysis of borderline personality disorder (BPD) to date, with a discovery sample of 12,339 cases and 1,041,717 controls, and a replication study of 685 cases and 107,750 controls (all participants of European ancestry). We identified 11 independent associated genomic loci, and nine risk genes in the gene-based analysis. We observed a single-nucleotide polymorphism (SNP) heritability of 17.3% and derived polygenic scores (PGS) predicted 4.6% of the phenotypic variance in BPD on the liability scale. BPD showed the strongest positive genetic correlations with GWAS of posttraumatic stress disorder, depression, attention deficit hyperactivity disorder, antisocial behavior, and measures of suicide and self-harm. Phenome-wide association analyses using BPD-PGS confirmed these associations and additionally revealed associations with general medical conditions including obstructive pulmonary disease and diabetes. The present analyses highlight BPD as a polygenic disorder, with the genetic risk showing substantial overlap with psychiatric and physical health conditions.
U2 - 10.1101/2024.11.12.24316957
DO - 10.1101/2024.11.12.24316957
M3 - Preprint
C2 - 40832388
T3 - medRxiv : the preprint server for health sciences
BT - Genome-wide association study of borderline personality disorder identifies 11 loci and highlights shared risk with mental and somatic disorders
ER -