Common genetic variants contribute to heritability of age at onset of schizophrenia.


Journal

Translational psychiatry
ISSN: 2158-3188
Titre abrégé: Transl Psychiatry
Pays: United States
ID NLM: 101562664

Informations de publication

Date de publication:
13 06 2023
Historique:
received: 17 01 2023
accepted: 02 06 2023
revised: 23 05 2023
medline: 14 6 2023
pubmed: 13 6 2023
entrez: 12 6 2023
Statut: epublish

Résumé

Schizophrenia (SCZ) is a complex disorder that typically arises in late adolescence or early adulthood. Age at onset (AAO) of SCZ is associated with long-term outcomes of the disease. We explored the genetic architecture of AAO with a genome-wide association study (GWAS), heritability, polygenic risk score (PRS), and copy number variant (CNV) analyses in 4 740 subjects of European ancestry. Although no genome-wide significant locus was identified, SNP-based heritability of AAO was estimated to be between 17 and 21%, indicating a moderate contribution of common variants. We also performed cross-trait PRS analyses with a set of mental disorders and identified a negative association between AAO and common variants for SCZ, childhood maltreatment and attention-deficit/hyperactivity disorder. We also investigated the role of copy number variants (CNVs) in AAO and found an association with the length and number of deletions (P-value = 0.03), whereas the presence of CNVs previously reported in SCZ was not associated with earlier onset. To our knowledge, this is the largest GWAS of AAO of SCZ to date in individuals from European ancestry, and the first study to determine the involvement of common variants in the heritability of AAO. Finally, we evidenced the role played by higher SCZ load in determining AAO but discarded the role of pathogenic CNVs. Altogether, these results shed light on the genetic architecture of AAO, which needs to be confirmed with larger studies.

Identifiants

pubmed: 37308478
doi: 10.1038/s41398-023-02508-0
pii: 10.1038/s41398-023-02508-0
pmc: PMC10261125
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

201

Commentaires et corrections

Type : ErratumIn

Informations de copyright

© 2023. The Author(s).

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Auteurs

Ester Sada-Fuente (E)

Hospital Universitari Institut Pere Mata, Institut d'Investigació Sanitària Pere Virgili (IISPV), Department of Psychiatry, Universitat Rovira i Virgili (URV), Reus, Spain.
Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.

Selena Aranda (S)

Hospital Universitari Institut Pere Mata, Institut d'Investigació Sanitària Pere Virgili (IISPV), Department of Psychiatry, Universitat Rovira i Virgili (URV), Reus, Spain.
Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.

Sergi Papiol (S)

Institute of Psychiatric Phenomics and Genomics (IPPG), University Hospital, Ludwig Maximilian University of Munich, 80336, Munich, Germany.
Department of Psychiatry and Psychotherapy, University Hospital, Ludwig Maximilian University of Munich, 80336, Munich, Germany.

Urs Heilbronner (U)

Institute of Psychiatric Phenomics and Genomics (IPPG), University Hospital, Ludwig Maximilian University of Munich, 80336, Munich, Germany.

María Dolores Moltó (MD)

Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Department of Genetics, Universitat de Valencia, 46100, Valencia, Spain.
Biomedical Research Institute INCLIVA, 46010, Valencia, Spain.

Eduardo J Aguilar (EJ)

Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Biomedical Research Institute INCLIVA, 46010, Valencia, Spain.
Department of Psychiatry, Hospital Clínico Universitario de Valencia, 46010, Valencia, Spain.
Faculty of Medicine, Universidad de Valencia, 46010, Valencia, Spain.

Javier González-Peñas (J)

Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Gregorio Marañón Health Research Institute (IiSGM), Hospital General Universitario Gregorio Marañón, 28007, Madrid, Spain.

Álvaro Andreu-Bernabeu (Á)

Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Gregorio Marañón Health Research Institute (IiSGM), Hospital General Universitario Gregorio Marañón, 28007, Madrid, Spain.
Faculty of Medicine, Universidad Complutense, 28007, Madrid, Spain.

Celso Arango (C)

Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Gregorio Marañón Health Research Institute (IiSGM), Hospital General Universitario Gregorio Marañón, 28007, Madrid, Spain.
Faculty of Medicine, Universidad Complutense, 28007, Madrid, Spain.

Benedicto Crespo-Facorro (B)

Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Department of Psychiatry, Universidad de Cantabria, 39005, Santander, Cantabria, Spain.
Hospital Universitario Marqués de Valdecilla-IDIVAL, 39008, Santander, Cantabria, Spain.
Department of Psychiatry, University Hospital Virgen del Rocío, Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain.

Ana González-Pinto (A)

Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Department of Psychiatry, Hospital Universitario Araba, Instituto de Investigación Sanitaria Bioaraba, Universidad del País Vasco, 01009, Vitoria, Spain.

Lourdes Fañanás (L)

Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Department of Evolutionary Biology, Ecology and Environmental Sciences, Faculty of Biology, Universitat de Barcelona, Institut de Biomedicina de la Universitat de Barcelona (IBUB), 08028, Barcelona, Spain.

Barbara Arias (B)

Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Department of Evolutionary Biology, Ecology and Environmental Sciences, Faculty of Biology, Universitat de Barcelona, Institut de Biomedicina de la Universitat de Barcelona (IBUB), 08028, Barcelona, Spain.

Julio Bobes (J)

Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Faculty of Medicine and Health Sciences - Psychiatry, Universidad de Oviedo, 33006, Oviedo, Spain.
Mental Health Services of Principado de Asturias (SESPA), Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011, Oviedo, Spain.
Instituto de Neurociencias del Principado de Asturias (INEUROPA), 33003, Oviedo, Spain.

Javier Costas (J)

Psychiatric Genetics Group, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Servizo Galego de Saúde (SERGAS), Complexo Hospitalario Universitario de Santiago de Compostela (CHUS), 15706, Santiago de Compostela, Spain.

Lourdes Martorell (L)

Hospital Universitari Institut Pere Mata, Institut d'Investigació Sanitària Pere Virgili (IISPV), Department of Psychiatry, Universitat Rovira i Virgili (URV), Reus, Spain.
Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.

Thomas G Schulze (TG)

Institute of Psychiatric Phenomics and Genomics (IPPG), University Hospital, Ludwig Maximilian University of Munich, 80336, Munich, Germany.
Department of Psychiatry and Psychotherapy, University Hospital, Ludwig Maximilian University of Munich, 80336, Munich, Germany.
Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, US.

Janos L Kalman (JL)

Institute of Psychiatric Phenomics and Genomics (IPPG), University Hospital, Ludwig Maximilian University of Munich, 80336, Munich, Germany.
Department of Psychiatry and Psychotherapy, University Hospital, Ludwig Maximilian University of Munich, 80336, Munich, Germany.

Elisabet Vilella (E)

Hospital Universitari Institut Pere Mata, Institut d'Investigació Sanitària Pere Virgili (IISPV), Department of Psychiatry, Universitat Rovira i Virgili (URV), Reus, Spain. vilellae@peremata.com.
Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain. vilellae@peremata.com.

Gerard Muntané (G)

Hospital Universitari Institut Pere Mata, Institut d'Investigació Sanitària Pere Virgili (IISPV), Department of Psychiatry, Universitat Rovira i Virgili (URV), Reus, Spain. muntaneg@peremata.com.
Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain. muntaneg@peremata.com.
Institut de Biologia Evolutiva (UPF-CSIC), Departament de Medicina i Ciències de la Vida, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain. muntaneg@peremata.com.

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