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<p>Borderline personality disorder (BPD) is a severe mental health condition influenced by environmental risk factors (for example, interpersonal trauma) and genetic factors. We conducted the largest genome-wide association study (GWAS) meta-analysis of BPD so far, 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 9 risk genes in gene-based analyses. We observed a single-nucleotide polymorphism heritability of 17.3% and derived polygenic scores (PGS) that predicted 4.6% of the phenotypic variance in BPD on the liability scale. BPD showed the strongest positive genetic correlations with GWAS of post-traumatic stress disorder, depression, attention deficit hyperactivity disorder, antisocial behavior, and measures of suicide and self-harm. Phenome-wide analyses in Vanderbilt University Medical Center Biobank and UK Biobank using BPD-PGS confirmed these associations and also identified associations with other medical conditions, including obstructive pulmonary disease and diabetes. These analyses highlight BPD as a polygenic disorder, with the genetic risk showing substantial overlap with psychiatric and physical health conditions.</p>

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Genome-wide association analyses of borderline personality disorder identify 11 loci and highlight shared risk with mental and somatic disorders

  • 期刊论文

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  • 发表日期：

    2026年7月20日

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  • Fabian Streit,
  • Swapnil Awasthi,
  • Alisha S. M. Hall,
  • Alice Braun,
  • Maria Niarchou,
  • Eirini Marouli,
  • Oladapo Babajide,
  • Josef Frank,
  • Lea Zillich,
  • Carolin M. Callies,
  • Diana Avetyan,
  • Eric Zillich,
  • Joonas Naamanka,
  • Jean Gonzalez,
  • Arvid Harder,
  • Yi Lu,
  • Zouhair Aherrahrou,
  • Zain-Ul-Abideen Ahmad,
  • Helga Ask,
  • Anthony Batzler,
  • Michael E. Benros,
  • Odette M. Brand-de Wilde,
  • Søren Brunak,
  • Mie T. Bruun,
  • Lea A. N. Christoffersen,
  • Lucía Colodro-Conde,
  • Brandon J. Coombes,
  • Elizabeth C. Corfield,
  • Norbert Dahmen,
  • Maria Didriksen,
  • Khoa M. Dinh,
  • Srdjan Djurovic,
  • Joseph Dowsett,
  • Ole Kristian Drange,
  • Helene Dukal,
  • Susanne Edelmann,
  • Christian Erikstrup,
  • Mariana K. Espinola,
  • Eva Fassbinder,
  • Annika Faucon,
  • Diana S. Ferreira de Sá,
  • Jerome C. Foo,
  • Maria Gilles,
  • Alfonso Gutiérrez-Zotes,
  • Thomas F. Hansen,
  • Magnus Haraldsson,
  • R. Patrick Harper,
  • Alexandra Havdahl,
  • Urs Heilbronner,
  • Stefan Herms,
  • Henrik Hjalgrim,
  • Christopher Hübel,
  • Gitta A. Jacob,
  • Bitten Aagaard,
  • Anders Jorgensen,
  • Martin Jungkunz,
  • Nikolaus Kleindienst,
  • Nora Knoblich,
  • Stefanie Koglin,
  • Julia Kraft,
  • Kristi Krebs,
  • Christopher W. Lee,
  • Yuhao Lin,
  • Stefanie Lis,
  • Amanda Lisoway,
  • Ioannis A. Malogiannis,
  • Amy Martinsen,
  • Tolou Maslahati,
  • Katharina Merz,
  • Andreas Meyer-Lindenberg,
  • Susan Mikkelsen,
  • Christina Mikkelsen,
  • Arian Mobascher,
  • Gerard Muntané,
  • Asmundur Oddsson,
  • Sisse R. Ostrowski,
  • Teemu Palviainen,
  • Ole B. V. Pedersen,
  • Geir Pedersen,
  • Liam Quinn,
  • Matthias A. Reinhard,
  • Florian A. Ruths,
  • Björn H. Schott,
  • Michael Schredl,
  • Emanuel Schwarz,
  • Cornelia E. Schwarze,
  • Michael Schwinn,
  • Tabea Sarah Send,
  • Engilbert Sigurdsson,
  • Katja Simon-Keller,
  • Astros T. Skuladottir,
  • Joaquim Soler,
  • Anne Sonley,
  • Erik Sørensen,
  • Hreinn Stefansson,
  • Peter Straub,
  • Jaana Suvisaari,
  • Martin Tesli,
  • Jacob Træholt,
  • Henrik Ullum,
  • Maja P. Völker,
  • G. Bragi Walters,
  • Rujia Wang,
  • Christian C. Witt,
  • Gerhard Zarbock,
  • Peter Zill,
  • John-Anker Zwart,
  • Ole A. Andreassen,
  • Arnoud Arntz,
  • Joanna M. Biernacka,
  • Martin Bohus,
  • Gerome Breen,
  • Alexander L. Chapman,
  • Sven Cichon,
  • Lea K. Davis,
  • Michael Deuschle,
  • Sebastian Euler,
  • Sabine C. Herpertz,
  • Benjamin Hummelen,
  • Andrea Jobst,
  • Jaakko Kaprio,
  • James L. Kennedy,
  • Kelli Lehto,
  • Klaus Lieb,
  • Lourdes Martorell,
  • Shelley McMain,
  • Richard Musil,
  • Vanessa Nieratschker,
  • Markus M. Nöthen,
  • Frank Padberg,
  • Aarno Palotie,
  • Juan C. Pascual,
  • Nader Perroud,
  • Josep A. Ramos-Quiroga,
  • Ted Reichborn-Kjennerud,
  • Marta Ribases,
  • Stefan Roepke,
  • Dan Rujescu,
  • Sandra Sanchez-Roige,
  • Claudia Schilling,
  • Christian Schmahl,
  • Kari Stefansson,
  • Thorgeir E. Thorgeirsson,
  • Gustavo Turecki,
  • Elisabet Vilella,
  • Thomas Werge,
  • Bendik S. Winsvold,
  • Johannes Wrege,
  • Marcella Rietschel,
  • Stephan Ripke,
  • Stephanie H. Witt

摘要

Borderline personality disorder (BPD) is a severe mental health condition influenced by environmental risk factors (for example, interpersonal trauma) and genetic factors. We conducted the largest genome-wide association study (GWAS) meta-analysis of BPD so far, 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 9 risk genes in gene-based analyses. We observed a single-nucleotide polymorphism heritability of 17.3% and derived polygenic scores (PGS) that predicted 4.6% of the phenotypic variance in BPD on the liability scale. BPD showed the strongest positive genetic correlations with GWAS of post-traumatic stress disorder, depression, attention deficit hyperactivity disorder, antisocial behavior, and measures of suicide and self-harm. Phenome-wide analyses in Vanderbilt University Medical Center Biobank and UK Biobank using BPD-PGS confirmed these associations and also identified associations with other medical conditions, including obstructive pulmonary disease and diabetes. These analyses highlight BPD as a polygenic disorder, with the genetic risk showing substantial overlap with psychiatric and physical health conditions.