The genomics of visuospatial neurocognition in obsessive-compulsive disorder: A preliminary GWAS

Background: The study of Obsessive-Compulsive Disorder (OCD) genomics has primarily been tackled by Genome-wide association studies (GWAS), which have encountered troubles in identifying replicable single nucleotide polymorphisms (SNPs). Endophenotypes have emerged as a promising avenue of study in...

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Autores: Alemany Navarro, M., Tubío Fungueiriño, M., Diz de Almeida, Silvia, Cruz, R., Lombroso, A., Real, E., Soria, Virginia, Bertolín Triquell, Sara, Fernández Prieto, M., Alonso, P., Menchón Magriñá, José Manuel, Carracedo, A., Segalàs Cosi, Cinto
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/200901
Acesso em linha:https://hdl.handle.net/2445/200901
Access Level:acceso abierto
Palavra-chave:Genòmica
Neurosi obsessiva
Neurociència cognitiva
Genomics
Obsessive-compulsive disorder
Cognitive neuroscience
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spelling The genomics of visuospatial neurocognition in obsessive-compulsive disorder: A preliminary GWASAlemany Navarro, M.Tubío Fungueiriño, M.Diz de Almeida, SilviaCruz, R.Lombroso, A.Real, E.Soria, VirginiaBertolín Triquell, SaraFernández Prieto, M.Alonso, P.Menchón Magriñá, José ManuelCarracedo, A.Segalàs Cosi, CintoGenòmicaNeurosi obsessivaNeurociència cognitivaGenomicsObsessive-compulsive disorderCognitive neuroscienceBackground: The study of Obsessive-Compulsive Disorder (OCD) genomics has primarily been tackled by Genome-wide association studies (GWAS), which have encountered troubles in identifying replicable single nucleotide polymorphisms (SNPs). Endophenotypes have emerged as a promising avenue of study in trying to elucidate the genomic bases of complex traits such as OCD.Methods: We analyzed the association of SNPs across the whole genome with the construction of visuospatial information and executive performance through four neurocognitive variables assessed by the Rey-Osterrieth Complex Figure Test (ROCFT) in a sample of 133 OCD probands. Analyses were performed at SNP- and genelevel.Results: No SNP reached genome-wide significance, although there was one SNP almost reaching significant association with copy organization (rs60360940; P = 9.98E-08). Suggestive signals were found for the four variables at both SNP- (P < 1E-05) and gene-levels (P < 1E-04). Most of the suggestive signals pointed to genes and genomic regions previously associated with neurological function and neuropsychological traits. Limitations: Our main limitations were the sample size, which was limited to identify associated signals at a genome-wide level, and the composition of the sample, more representative of rather severe OCD cases than a population-based OCD sample with a broad severity spectrum.Conclusions: Our results suggest that studying neurocognitive variables in GWAS would be more informative on the genetic basis of OCD than the classical case/control GWAS, facilitating the genetic characterization of OCD and its different clinical profiles, the development of individualized treatment approaches, and the improvement of prognosis and treatment response.Elsevier BV2023202320232023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion12 p.application/pdfhttps://hdl.handle.net/2445/200901Articles publicats en revistes (Ciències Clíniques)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1016/j.jad.2023.04.060Journal of Affective Disorders, 2023, vol. 333, p. 365-376https://doi.org/10.1016/j.jad.2023.04.060cc by (c) Alemany Navarro, M. et al., 2023http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/2009012026-05-29T05:05:01Z
dc.title.none.fl_str_mv The genomics of visuospatial neurocognition in obsessive-compulsive disorder: A preliminary GWAS
title The genomics of visuospatial neurocognition in obsessive-compulsive disorder: A preliminary GWAS
spellingShingle The genomics of visuospatial neurocognition in obsessive-compulsive disorder: A preliminary GWAS
Alemany Navarro, M.
Genòmica
Neurosi obsessiva
Neurociència cognitiva
Genomics
Obsessive-compulsive disorder
Cognitive neuroscience
title_short The genomics of visuospatial neurocognition in obsessive-compulsive disorder: A preliminary GWAS
title_full The genomics of visuospatial neurocognition in obsessive-compulsive disorder: A preliminary GWAS
title_fullStr The genomics of visuospatial neurocognition in obsessive-compulsive disorder: A preliminary GWAS
title_full_unstemmed The genomics of visuospatial neurocognition in obsessive-compulsive disorder: A preliminary GWAS
title_sort The genomics of visuospatial neurocognition in obsessive-compulsive disorder: A preliminary GWAS
dc.creator.none.fl_str_mv Alemany Navarro, M.
Tubío Fungueiriño, M.
Diz de Almeida, Silvia
Cruz, R.
Lombroso, A.
Real, E.
Soria, Virginia
Bertolín Triquell, Sara
Fernández Prieto, M.
Alonso, P.
Menchón Magriñá, José Manuel
Carracedo, A.
Segalàs Cosi, Cinto
author Alemany Navarro, M.
author_facet Alemany Navarro, M.
Tubío Fungueiriño, M.
Diz de Almeida, Silvia
Cruz, R.
Lombroso, A.
Real, E.
Soria, Virginia
Bertolín Triquell, Sara
Fernández Prieto, M.
Alonso, P.
Menchón Magriñá, José Manuel
Carracedo, A.
Segalàs Cosi, Cinto
author_role author
author2 Tubío Fungueiriño, M.
Diz de Almeida, Silvia
Cruz, R.
Lombroso, A.
Real, E.
Soria, Virginia
Bertolín Triquell, Sara
Fernández Prieto, M.
Alonso, P.
Menchón Magriñá, José Manuel
Carracedo, A.
Segalàs Cosi, Cinto
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Genòmica
Neurosi obsessiva
Neurociència cognitiva
Genomics
Obsessive-compulsive disorder
Cognitive neuroscience
topic Genòmica
Neurosi obsessiva
Neurociència cognitiva
Genomics
Obsessive-compulsive disorder
Cognitive neuroscience
description Background: The study of Obsessive-Compulsive Disorder (OCD) genomics has primarily been tackled by Genome-wide association studies (GWAS), which have encountered troubles in identifying replicable single nucleotide polymorphisms (SNPs). Endophenotypes have emerged as a promising avenue of study in trying to elucidate the genomic bases of complex traits such as OCD.Methods: We analyzed the association of SNPs across the whole genome with the construction of visuospatial information and executive performance through four neurocognitive variables assessed by the Rey-Osterrieth Complex Figure Test (ROCFT) in a sample of 133 OCD probands. Analyses were performed at SNP- and genelevel.Results: No SNP reached genome-wide significance, although there was one SNP almost reaching significant association with copy organization (rs60360940; P = 9.98E-08). Suggestive signals were found for the four variables at both SNP- (P < 1E-05) and gene-levels (P < 1E-04). Most of the suggestive signals pointed to genes and genomic regions previously associated with neurological function and neuropsychological traits. Limitations: Our main limitations were the sample size, which was limited to identify associated signals at a genome-wide level, and the composition of the sample, more representative of rather severe OCD cases than a population-based OCD sample with a broad severity spectrum.Conclusions: Our results suggest that studying neurocognitive variables in GWAS would be more informative on the genetic basis of OCD than the classical case/control GWAS, facilitating the genetic characterization of OCD and its different clinical profiles, the development of individualized treatment approaches, and the improvement of prognosis and treatment response.
publishDate 2023
dc.date.none.fl_str_mv 2023
2023
2023
2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/200901
url https://hdl.handle.net/2445/200901
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1016/j.jad.2023.04.060
Journal of Affective Disorders, 2023, vol. 333, p. 365-376
https://doi.org/10.1016/j.jad.2023.04.060
dc.rights.none.fl_str_mv cc by (c) Alemany Navarro, M. et al., 2023
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Alemany Navarro, M. et al., 2023
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 12 p.
application/pdf
dc.publisher.none.fl_str_mv Elsevier BV
publisher.none.fl_str_mv Elsevier BV
dc.source.none.fl_str_mv Articles publicats en revistes (Ciències Clíniques)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812455

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