{rfName}

Documents and Files

License and Use

Licencia Icono OpenAccess

Citations

1

Altmetrics

Analysis of institutional authors

Rodriguez NAuthorMartinez-Pinteño AAuthorOlivares-Berjaga DAuthorMartínez IAuthorGonzalez AAuthorMezquida GAuthorBernardo MAuthorGasso PAuthorMas SCorresponding Author

Share

January 17, 2024
Publications
>
Article

Gene expression imputation provides clinical and biological insights into treatment-resistant schizophrenia polygenic risk

Publicated to: PSYCHIATRY RESEARCH. 332 115722- - 2024-02-01 332(), DOI: 10.1016/j.psychres.2024.115722

Authors:

Prohens, L; Rodríguez, N; Segura, AG; Martínez-Pinteño, A; Olivares-Berjaga, D; Martínez, I; González, A; Mezquida, G; Parellada, M; Cuesta, MJ; Bernardo, M; Gassó, P; Mas, S
[+]

Affiliations

Centro de Investigación Biomédica en red en salud Mental (CIBERSAM), ISCIII, Spain; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, IiSGM, Madrid, Spain; School of - Author
Centro de Investigación Biomédica en red en salud Mental (CIBERSAM), ISCIII, Spain; Department of Psychiatry, Hospital Universitario de Navarra, Pamplona, Spain; Navarra Institute for Health Research (IdiSNA), Pamplona, Spain. - Author
Ctr Invest on Biomed Red Salud Mental CIBERSAM, Barcelona, Spain - Author
Department of Clinical Foundations, Pharmacology Unit, University of Barcelona, Barcelona, Spain. - Author
Department of Clinical Foundations, Pharmacology Unit, University of Barcelona, Barcelona, Spain; Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. - Author
Department of Clinical Foundations, Pharmacology Unit, University of Barcelona, Barcelona, Spain; Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en red en salud Mental (CIBERSAM), IS - Author
Hosp Clin Barcelona, Neurosci Inst, Barcelona Clin Schizophrenia Unit BCSU, Barcelona, Spain - Author
Hosp Gen Univ Gregorio Maranon, Inst Psychiat & Mental Hlth, Dept Child & Adolescent Psychiat, IiSGM, Madrid, Spain - Author
Hosp Univ Navarra, Dept Psychiat, Pamplona, Spain - Author
Inst Invest Biomed August Pi i Sunyer IDIBAPS, Barcelona, Spain - Author
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. - Author
Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en red en salud Mental (CIBERSAM), ISCIII, Spain; Barcelona Clínic Schizophrenia Unit (BCSU), Neuroscience Institute, Hospital Clínic d - Author
ISCIII, Ctr Invest Biomed Red Salud Mental CIBERSAM, Madrid, Spain - Author
Navarra Inst Hlth Res IdiSNA, Pamplona, Spain - Author
Univ Barcelona, Dept Clin Fdn, Pharmacol Unit, Barcelona, Spain - Author
Univ Barcelona, Dept Med, Barcelona, Spain - Author
Univ Barcelona, Inst Invest Biomed August Pi i Sunyer IDIBAPS, Pharmacol Unit, Dept Clin Fdn, Barcelona, Spain - Author
Univ Complutense, Sch Med, Madrid, Spain - Author
See more

Abstract

Genome-wide association studies (GWAS) have revealed the polygenic nature of treatment-resistant schizophrenia TRS. Gene expression imputation allowed the translation of GWAS results into regulatory mechanisms and the construction of gene expression (GReX) risk scores (GReX-RS).  In the present study we computed GReX-RS from the largest GWAS of TRS to assess its association with clinical features. We perform transcriptome imputation in the largest GWAS of TRS to find GReX associated with TRS using brain tissues. Then, for each tissue, we constructed a GReX-RS of the identified genes in a sample of 254 genotyped first episode of psychosis (FEP) patients to test its association with clinical phenotypes, including clinical symptomatology, global functioning and cognitive performance. Our analysis provides evidence that the polygenic basis of TRS includes genetic variants that modulate the expression of certain genes in certain brain areas (substantia nigra, hippocampus, amygdala and frontal cortex), which at the same time are related to clinical features in FEP patients, mainly persistence of negative symptoms and cognitive alterations in sustained attention, which have also been suggested as clinical predictors of TRS. Our results provide a clinical explanation of the polygenic architecture of TRS and give more insight into the biological mechanisms underlying TRS.
[+]

Keywords

AdolescentAdultAmygdalaArticleAttentionBrain tissueChildChlorpromazineCognitive defectControlled studyDiagnosisDiagnosticEsquizofreniaExecutive functionFemaleFrontal cortexGene expressionGenetic risk scoreGenetic variabilityGenetic variationGenéticaGeneticsGenoma humàGenome-wide association studiesGenome-wide association studyGenotypeGenotypingHippocampusHumanHuman genomeHuman tissueHumansMajor clinical studyMaleNegative syndromePolygenic risk scorePositive and negative syndrome scalePositive syndromePsicosiPsychologyPsychosesPsychosisPsychotic disordersSchizophreniaSchizophrenia, treatment-resistantSubstantia nigraTranscriptome imputationTreatment-resistantTreatment-resistant schizophreniaVerbal learningVerbal memoryWorking memory

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal PSYCHIATRY RESEARCH due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2024 there are still no calculated indicators, but in 2023, it was in position 55/288, thus managing to position itself as a Q1 (Primer Cuartil), in the category Psychiatry.

[+]

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2026-04-07:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 20.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 20 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 1.
  • The number of mentions on the social network X (formerly Twitter): 1 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
  • Assignment of a Handle/URN as an identifier within the deposit in the Institutional Repository: http://hdl.handle.net/2445/222664
[+]

Leadership analysis of institutional authors

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: Last Author (Mas Herrero, Sergi).

the author responsible for correspondence tasks has been Mas Herrero, Sergi.

[+]

Related Items