Autor según el artículo: Sada-Fuente, E; Aranda, S; Papiol, S; Heilbronner, U; Moltó, MD; Aguilar, EJ; González-Peñas, J; Andreu-Bernabeu, A; Arango, C; Crespo-Facorro, B; González-Pinto, A; Fañanás, L; Arias, B; Bobes, J; Costas, J; Martorell, L; Schulze, TG; Kalman, JL; Vilella, E; Muntané, G
Departamento: Medicina i Cirurgia
Autor/es de la URV: Aranda Castel, Selena / Martorell Bonet, Lourdes / Muntané Medina, Gerard / Sada Fuente, Ester / Vilella Cuadrada, Elisabet
Palabras clave: Genome-wide association sex-differences risk psychosis of-onset metaanalysis copy number variants
Resumen: 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.© 2023. The Author(s).
Áreas temáticas: Saúde coletiva Psychiatry and mental health Psychiatry Psicología Nutrição Medicina ii Medicina i Linguística e literatura Interdisciplinar Engenharias iv Enfermagem Educação física Ciências biológicas ii Ciências biológicas i Cellular and molecular neuroscience Biotecnología Biological psychiatry
Acceso a la licencia de uso: https://creativecommons.org/licenses/by/3.0/es/
Direcció de correo del autor: gerard.muntane@urv.cat lourdes.martorell@urv.cat elisabet.vilella@urv.cat selena.aranda@estudiants.urv.cat ester.sada@estudiants.urv.cat ester.sada@estudiants.urv.cat
Identificador del autor: 0000-0003-4999-2197 0000-0002-1887-5919
Fecha de alta del registro: 2024-08-03
Versión del articulo depositado: info:eu-repo/semantics/publishedVersion
Enlace a la fuente original: https://www.nature.com/articles/s41398-023-02508-0
URL Documento de licencia: https://repositori.urv.cat/ca/proteccio-de-dades/
Referencia al articulo segun fuente origial: Translational Psychiatry. 13 (1): 201-201
Referencia de l'ítem segons les normes APA: Sada-Fuente, E; Aranda, S; Papiol, S; Heilbronner, U; Moltó, MD; Aguilar, EJ; González-Peñas, J; Andreu-Bernabeu, A; Arango, C; Crespo-Facorro, B; Gon (2023). Common genetic variants contribute to heritability of age at onset of schizophrenia. Translational Psychiatry, 13(1), 201-201. DOI: 10.1038/s41398-023-02508-0
DOI del artículo: 10.1038/s41398-023-02508-0
Entidad: Universitat Rovira i Virgili
Año de publicación de la revista: 2023
Tipo de publicación: Journal Publications