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Record W4393862200 · doi:10.1038/s41398-024-02865-4

Immunogenetics of lithium response and psychiatric phenotypes in patients with bipolar disorder

2024· article· en· W4393862200 on OpenAlexafffund
Marisol Herrera-Rivero, Karina Gutiérrez-Fragoso, Anbupalam Thalamuthu, Azmeraw T. Amare, Mazda Adli, Kazufumi Akiyama, Nirmala Akula, Raffaella Ardau, Bárbara Arias, Jean‐Michel Aubry, Lena Backlund, Frank Bellivier, Antonio Benabarre, Susanne Bengesser, Abesh Kumar Bhattacharjee, Joanna M. Biernacka, Armin Birner, Micah Cearns, Pablo Cervantes, Hsi‐Chung Chen, Caterina Chillotti, Sven Cichon, Scott R. Clark, Francesc Colom, Cristiana Cruceanu, Piotr M. Czerski, Nina Dalkner, Franziska Degenhardt, Maria Del Zompo, J. Raymond DePaulo, Bruno Étain, Peter Falkai, Ewa Ferensztajn‐Rochowiak, Andreas J. Forstner, Josef Frank, Louise Frisén, Mark A. Frye, Janice M. Fullerton, Carla Gallo, Sébastien Gard, Julie Garnham, Fernando S. Goes, Maria Grigoroiu‐Serbânescu, Paul Grof, Ryota Hashimoto, Roland Hasler, Joanna Hauser, Urs Heilbronner, Stefan Herms, Per Hoffmann, Liping Hou, Yi‐Hsiang Hsu, Stéphane Jamain, Esther Jiménez, Jean‐Pierre Kahn, Layla Kassem, Tadafumi Kato, John R. Kelsoe, Sarah Kittel‐Schneider, Po‐Hsiu Kuo, Ichiro Kusumi, Barbara König, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Marion Leboyer, Susan G. Leckband, Mario Maj, Mirko Manchia, Cynthia Marie‐Claire, Lina Martinsson, Michael J. McCarthy, Susan L. McElroy, Vincent Millischer, Marina Mitjans, Francis M. Mondimore, Palmiero Monteleone, Caroline M. Nievergelt, Tomáš Novák, Markus M. Nöthen, Claire O’Donovan, Norio Ozaki, Sergi Papiol, Andrea Pfennig, Claudia Pisanu, James B. Potash, Andreas Reif, Eva Z. Reininghaus, Hélène Richard-Lepouriel, Gloria Roberts, Guy A. Rouleau, Janusz Rybakowski, Martin Schalling, Peter R. Schofield, Klaus Oliver Schubert, Eva C. Schulte, Barbara Schweizer, Giovanni Severino, Tatyana Shekhtman, Paul D. Shilling, Katzutaka Shimoda, Christian Simhandl, Claire Slaney, Alessio Squassina, Thomas Stamm, Pavla Stopková, Fabian Streit, Fasil Tekola‐Ayele, Alfonso Tortorella, Gustavo Turecki, Julia Veeh, Eduard Vieta, Biju Viswanath, Stephanie H. Witt, Peter P. Zandi, Martin Alda, Michael Bauer, Francis J. McMahon, Philip B. Mitchell, Marcella Rietschel, Thomas G. Schulze, Joachim Kurtz, Bernhard T. Baune

Bibliographic record

VenueTranslational Psychiatry · 2024
Typearticle
Languageen
FieldMedicine
TopicBipolar Disorder and Treatment
Canadian institutionsCentre for Movement DisordersMcGill UniversityDouglas Mental Health University InstituteMcGill University Health CentreDalhousie UniversityMontreal Neurological Institute and Hospital
FundersNational Health and Medical Research CouncilMedical Research CouncilCanadian Institutes of Health ResearchNational Institutes of HealthResearch Nova ScotiaGenome AtlanticThe Wellcome Trust DBT India AllianceUnitatea Executiva pentru Finantarea Invatamantului Superior, a Cercetarii, Dezvoltarii si InovariiGeneralitat de CatalunyaUniversité de GenèveHôpitaux Universitaires de GenèveVetenskapsrådetNational Institute of Mental HealthStockholms Läns LandstingDokkyo Medical UniversityMinisterstvo Školství, Mládeže a TělovýchovyBundesministerium für Bildung und ForschungGrantová Agentura České RepublikyCentro de Investigación Biomédica en Red de Salud MentalNational Alliance for Research on Schizophrenia and DepressionKarolinska InstitutetInstitut National de la Santé et de la Recherche MédicaleCentres de Recerca de CatalunyaDeutsche ForschungsgemeinschaftInstituto de Salud Carlos IIIUniversitat de BarcelonaDepartment of Biotechnology, Ministry of Science and Technology, IndiaFondation FondaMentalU.S. Department of Veterans AffairsUniversity of New South WalesAgence Nationale de la RechercheWellcome TrustBrain and Behavior Research Foundation
KeywordsBipolar disorderGenome-wide association studySchizophrenia (object-oriented programming)Genetic associationPsychosisLithium (medication)DiseaseGenetic architectureMood disordersMedicineImmune systemPhenotypePsychiatryGeneticsClinical psychologyPsychologyInternal medicineImmunologySingle-nucleotide polymorphismBiologyGeneGenotypeAnxiety

Abstract

fetched live from OpenAlex

Abstract The link between bipolar disorder (BP) and immune dysfunction remains controversial. While epidemiological studies have long suggested an association, recent research has found only limited evidence of such a relationship. To clarify this, we performed an exploratory study of the contributions of immune-relevant genetic factors to the response to lithium (Li) treatment and the clinical presentation of BP. First, we assessed the association of a large collection of immune-related genes (4925) with Li response, defined by the Retrospective Assessment of the Lithium Response Phenotype Scale (Alda scale), and clinical characteristics in patients with BP from the International Consortium on Lithium Genetics (ConLi + Gen, N = 2374). Second, we calculated here previously published polygenic scores (PGSs) for immune-related traits and evaluated their associations with Li response and clinical features. Overall, we observed relatively weak associations ( p < 1 × 10 −4 ) with BP phenotypes within immune-related genes. Network and functional enrichment analyses of the top findings from the association analyses of Li response variables showed an overrepresentation of pathways participating in cell adhesion and intercellular communication. These appeared to converge on the well-known Li-induced inhibition of GSK-3β. Association analyses of age-at-onset, number of mood episodes, and presence of psychosis, substance abuse and/or suicidal ideation suggested modest contributions of genes such as RTN4 , XKR4 , NRXN1 , NRG1/3 and GRK5 to disease characteristics. PGS analyses returned weak associations ( p < 0.05) between inflammation markers and the studied BP phenotypes. Our results suggest a modest relationship between immunity and clinical features in BP. More research is needed to assess the potential therapeutic relevance.

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)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.107
Threshold uncertainty score0.394

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
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 head0.005
GPT teacher head0.238
Teacher spread0.233 · 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.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

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

Citations14
Published2024
Admission routes2
Has abstractyes

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