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Record W4394924136 · doi:10.1038/s41588-024-01707-9

Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder

2024· review· en· W4394924136 on OpenAlexaff
Caroline M. Nievergelt, Adam X. Maihofer, Elizabeth G. Atkinson, Chia‐Yen Chen, Karmel W. Choi, Jonathan R. I. Coleman, Nikolaos P. Daskalakis, Laramie E. Duncan, Renato Polimanti, Cindy Aaronson, Ananda B. Amstadter, Søren Bo Andersen, Ole A. Andreassen, Paul A. Arbisi, Allison E. Ashley‐Koch, S. Bryn Austin, Esmina Avdibegović, Dragan Babić, Silviu‐Alin Bacanu, Dewleen G. Baker, Anthony Batzler, Jean C. Beckham, Síntia Belangero, Corina Benjet, Carisa Bergner, Linda M. Bierer, Joanna M. Biernacka, Laura J. Bierut, Jonathan I. Bisson, Marco P. Boks, Elizabeth Bolger, Amber Brandolino, Gerome Breen, Rodrigo A. Bressan, Richard A. Bryant, Angela C. Bustamante, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, Anders D. Børglum, Sigrid Børte, Leah Cahn, Joseph R. Calabrese, José Miguel Caldas‐de‐Almeida, Chris Chatzinakos, Sheraz Cheema, Sean Clouston, Lucía Colodro‐Conde, Brandon J. Coombes, Carlos S. Cruz-Fuentes, Anders M. Dale, Shareefa Dalvie, Lea K. Davis, Jürgen Deckert, Douglas L. Delahanty, Michelle F. Dennis, Frank Désarnaud, Christopher P. DiPietro, Seth G. Disner, Anna R. Docherty, Katharina Domschke, Grete Dyb, Alma Džubur Kulenović, Howard J. Edenberg, Alexandra Evans, Chiara Fabbri, Negar Fani, Lindsay A. Farrer, Adriana Feder, Norah C. Feeny, Janine D. Flory, David Forbes, Carol E. Franz, Sandro Galea, Melanie E. Garrett, Bizu Gelaye, Joel Gelernter, Elbert Geuze, Charles F. Gillespie, Slavina B. Goleva, Scott D. Gordon, Afërdita Goçi, Lana Ruvolo Grasser, Camila Guindalini, Magali Haas, Saskia P. Hagenaars, Michael A. Hauser, Andrew C. Heath, Sian Hemmings, Victor Hesselbrock, Ian B. Hickie, Kelleigh Hogan, David M. Hougaard, Hailiang Huang, Laura M. Huckins, Kristian Hveem, Miro Jakovljević, Arash Javanbakht, Gregory D. Jenkins, Jessica Johnson, Ian Jones, Tanja Jovanović, Karen‐Inge Karstoft, Milissa L. Kaufman, James L. Kennedy, Ronald C. Kessler, Alaptagin Khan, Nathan A. Kimbrel, Anthony P. King, Nastassja Koen, Roman Kotov, Henry R. Kranzler, Kristi Krebs, William S. Kremen, Pei Fen Kuan, Bruce R. Lawford, Lauren A. M. Lebois, Kelli Lehto, Daniel F. Levey, Israel Liberzon, Sarah D. Linnstaedt, Mark W. Logue, Adriana Lori, Yi Lu, Benjamin J. Luft, Michelle K. Lupton, Jurjen J. Luykx, Iouri Makotkine, Jessica L. Maples‐Keller, Shelby Marchese, Charles R. Marmar, Nicholas G. Martin, Gabriela Ariadna Martínez-Levy, Kerrie McAloney, Alexander C. McFarlane, Katie A. McLaughlin, Samuel A. McLean, Sarah E. Medland, Divya Mehta, Jacquelyn L. Meyers, Vasiliki Michopoulos, Elizabeth A. Mikita, Lili Milani, William Milberg, Mark W. Miller, Rajendra A. Morey, C. Phillip Morris, Ole Mors, Preben Bo Mortensen, Mary S. Mufford, Elliot C. Nelson, Merete Nordentoft, Sonya B. Norman, Nicole R. Nugent, Meaghan O’Donnell, Holly K. Orcutt, Pedro Mário Pan, Matthew S. Panizzon, Gita A. Pathak, Edward Peters, Alan L. Peterson, Matthew Peverill, Robert H. Pietrzak, Melissa A. Polusny, Bernice Porjesz, Abigail Powers, Xuejun Qin, Andrew Ratanatharathorn, Victoria B. Risbrough, Andrea L. Roberts, Alex O. Rothbaum, Barbara O. Rothbaum, Peter Roy‐Byrne, Kenneth J. Ruggiero, Ariane L. Rung, Heiko Runz, Bart P. F. Rutten, Stacey Saenz de Viteri, Giovanni Abrahão Salum, Laura Sampson, Sixto E. Sánchez, Marcos Santoro, Carina Seah, Soraya Seedat, Julia S. Seng, Andrey A. Shabalin, Christina M. Sheerin, Derrick Silove, Alicia K. Smith, Jordan W. Smoller, Scott R. Sponheim, Dan J. Stein, Synne Øien Stensland, Jennifer S. Stevens, Jennifer A. Sumner, Martin H. Teicher, Wesley K. Thompson, Arun K. Tiwari, Edward Trapido, Monica Uddin, Robert J. Ursano, Unnur Valdimarsdóttir, Miranda Van Hooff, Eric Vermetten, Christiaan H. Vinkers, Joanne Voisey, Yunpeng Wang, Zhewu Wang, Monika A. Waszczuk, Heike Weber, Frank R. Wendt, Thomas Werge, Michelle A. Williams, Douglas E. Williamson, Bendik S. Winsvold, Sherry Winternitz, Christiane Wolf, Erika J. Wolf, Yan Xia, Ying Xiong, Rachel Yehuda, Keith A. Young, Ross McD. Young, Clement C. Zai, Gwyneth Zai, Mark Zervas, Hongyu Zhao, Lori A. Zoellner, John‐Anker Zwart, Terri A. deRoon‐Cassini, Sanne J.H. van Rooij, Leigh L. van den Heuvel

Bibliographic record

VenueNature Genetics · 2024
Typereview
Languageen
FieldNeuroscience
TopicStress Responses and Cortisol
Canadian institutionsCentre for Addiction and Mental HealthPublic Health OntarioUniversity of Toronto
FundersCongressionally Directed Medical Research ProgramsEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute on Minority Health and Health DisparitiesMedical Research CouncilNational Center for Advancing Translational SciencesNational Human Genome Research InstituteNational Institute of Mental HealthStanley Center for Psychiatric Research, Broad InstituteACADIA PharmaceuticalsGenentechServierBiogenCohen Veterans BioscienceCabrini FoundationEisaiArmy Research OfficeJazz PharmaceuticalsU.S. Department of DefenseSanofiBroad InstituteNational Institutes of HealthU.S. Department of Health and Human ServicesMcCormick FoundationSage TherapeuticsDefense Advanced Research Projects AgencyH. Lundbeck A/SU.S. Department of Veterans Affairs
KeywordsGenome-wide association studyBiologyNeuroscienceGenetic associationGeneticsGeneSingle-nucleotide polymorphismGenotype

Abstract

fetched live from OpenAlex

Post-traumatic stress disorder (PTSD) genetics are characterized by lower discoverability than most other psychiatric disorders. The contribution to biological understanding from previous genetic studies has thus been limited. We performed a multi-ancestry meta-analysis of genome-wide association studies across 1,222,882 individuals of European ancestry (137,136 cases) and 58,051 admixed individuals with African and Native American ancestry (13,624 cases). We identified 95 genome-wide significant loci (80 new). Convergent multi-omic approaches identified 43 potential causal genes, broadly classified as neurotransmitter and ion channel synaptic modulators (for example, GRIA1, GRM8 and CACNA1E), developmental, axon guidance and transcription factors (for example, FOXP2, EFNA5 and DCC), synaptic structure and function genes (for example, PCLO, NCAM1 and PDE4B) and endocrine or immune regulators (for example, ESR1, TRAF3 and TANK). Additional top genes influence stress, immune, fear and threat-related processes, previously hypothesized to underlie PTSD neurobiology. These findings strengthen our understanding of neurobiological systems relevant to PTSD pathophysiology, while also opening new areas for investigation.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.002
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.977
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.033
GPT teacher head0.356
Teacher spread0.324 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designNot applicable
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations178
Published2024
Admission routes1
Has abstractyes

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