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dc.contributorHospital General de Granollers
dc.contributor.authorGuardiola-Ripoll, Maria
dc.contributor.authorSotero Moreno, Alejandro
dc.contributor.authorAlmódovar-Payá, Carmen
dc.contributor.authorHostalet, Noemí
dc.contributor.authorGuerrero-Pedraza, Amalia
dc.contributor.authorRamiro, Núria
dc.contributor.authorOrtiz-Gil, Jordi
dc.date.accessioned2022-05-20T09:59:11Z
dc.date.available2022-05-20T09:59:11Z
dc.date.issued2022-05-05
dc.identifier.citationGuardiola-Ripoll M, Sotero-Moreno A, Almodóvar-Payá C, Hostalet N, Guerrero-Pedraza A, Ramiro N, et al. Combining fMRI and DISC1 gene haplotypes to understand working memory-related brain activity in schizophrenia. Sci Rep. 2022 May 5;12:7351.
dc.identifier.urihttp://hdl.handle.net/11351/7557
dc.descriptionSchizophrenia; Magnetic Resonance Imaging; Haplotypes
dc.description.abstractThe DISC1 gene is one of the most relevant susceptibility genes for psychosis. However, the complex genetic landscape of this locus, which includes protective and risk variants in interaction, may have hindered consistent conclusions on how DISC1 contributes to schizophrenia (SZ) liability. Analysis from haplotype approaches and brain-based phenotypes can contribute to understanding DISC1 role in the neurobiology of this disorder. We assessed the brain correlates of DISC1 haplotypes associated with SZ through a functional neuroimaging genetics approach. First, we tested the association of two DISC1 haplotypes, the HEP1 (rs6675281-1000731-rs999710) and the HEP3 (rs151229-rs3738401), with the risk for SZ in a sample of 138 healthy subjects (HS) and 238 patients. This approach allowed the identification of three haplotypes associated with SZ (HEP1-CTG, HEP3-GA and HEP3-AA). Second, we explored whether these haplotypes exerted differential effects on n-back associated brain activity in a subsample of 70 HS compared to 70 patients (diagnosis × haplotype interaction effect). These analyses evidenced that HEP3-GA and HEP3-AA modulated working memory functional response conditional to the health/disease status in the cuneus, precuneus, middle cingulate cortex and the ventrolateral and dorsolateral prefrontal cortices. Our results are the first to show a diagnosis-based effect of DISC1 haplotypes on working memory-related brain activity, emphasising its role in SZ.
dc.language.isoeng
dc.publisherNature Publishing Group
dc.relation.ispartofseriesScientific Reports;12
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectEsquizofrènia
dc.subjectRessonància magnètica
dc.subjectHaploides
dc.subject.meshSchizophrenia
dc.subject.meshMagnetic Resonance Imaging
dc.subject.meshHaplotypes
dc.titleCombining fMRI and DISC1 gene haplotypes to understand working memory‑related brain activity in schizophrenia
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1038/s41598-022-10660-8
dc.subject.decsesquizofrenia
dc.subject.decsimagen por resonancia magnética
dc.subject.decshaplotipos
dc.relation.publishversionhttps://doi.org/10.1038/s41598-022-10660-8
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.authoraffiliation[Guardiola-Ripoll M, Almodóvar-Payá C] FIDMAG Germanes Hospitalàries Research Foundation, Sant Boi de Llobregat, Barcelona, Spain. CIBERSAM (Biomedical Research Network in Mental Health), Instituto de Salud Carlos III, Madrid, Spain. [Sotero-Moreno A, Hostalet N] FIDMAG Germanes Hospitalàries Research Foundation, Sant Boi de Llobregat, Barcelona, Spain. [Guerrero-Pedraza A] FIDMAG Germanes Hospitalàries Research Foundation, Sant Boi de Llobregat, Barcelona, Spain. Benito Menni Complex Assistencial en Salut Mental, Sant Boi de Llobregat, Barcelona, Spain. [Ramiro N] Hospital San Rafael, Barcelona, Spain. [Ortiz-Gil J] FIDMAG Germanes Hospitalàries Research Foundation, Sant Boi de Llobregat, Barcelona, Spain. CIBERSAM (Biomedical Research Network in Mental Health), Instituto de Salud Carlos III, Madrid, Spain. Psychology Unit, Hospital General de Granollers, Granollers, Spain
dc.identifier.pmid35513527
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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