2026-04-17T15:46:40Zhttps://recercat.cat/oai/request
oai:recercat.cat:2445/2232922025-12-04T19:14:43Zcom_2072_1057col_2072_478778col_2072_478825col_2072_478858col_2072_478917
RECERCAT author Herrera Rivero, Marisol author Gutiérrez Fragoso, Karina author Kurtz, Joachim author Baune, Bernhard T. author Benabarre, Antonio author Jiménez Martínez, Ester author Reininghaus, Eva Z. author Arias Sampériz, Bárbara author Mitjans Niubó, Marina author Richard Lepouriel, Hélène author Vieta i Pascual, Eduard, 1963- author International Consortium on Lithium Genetics (ConLi+Gen) 2025-09-19T11:35:15Z2025-09-19T11:35:15Z2024-04-032025-09-19T11:35:15Z 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. cc-by (c) Herrera-Rivero, M. et al., 2024 http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess Trastorn bipolar Liti Immunogenètica Manic-depressive illness Lithium Immunogenetics Immunogenetics of lithium response and psychiatric phenotypes in patients with bipolar disorder info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion