Combining fMRI and DISC1 gene haplotypes to understand working memory‑related brain activity in schizophrenia

Autor: Maria Guardiola-Ripoll, Alejandro Sotero-Moreno, Carmen Almodóvar-Payá, Noemí Hostalet, Amalia Guerrero-Pedraza, Núria Ramiro, Jordi Ortiz-Gil, Bárbara Arias, Mercè Madre, Joan Soler-Vidal, Raymond Salvador, Peter J. McKenna, Edith Pomarol-Clotet, Mar Fatjó-Vilas
Přispěvatelé: [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, Hospital General de Granollers
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Multidisciplinary
Ressonància magnètica
Brain
Nerve Tissue Proteins
Magnetic Resonance Imaging
Polymorphism
Single Nucleotide
Haploides
fenómenos genéticos::genotipo::haplotipos [FENÓMENOS Y PROCESOS]
trastornos mentales::espectro de la esquizofrenia y otros trastornos psicóticos::esquizofrenia [PSIQUIATRÍA Y PSICOLOGÍA]
Memory
Short-Term
Haplotypes
Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Imaging::Tomography::Magnetic Resonance Imaging [ANALYTICAL
DIAGNOSTIC AND THERAPEUTIC TECHNIQUES
AND EQUIPMENT]
Schizophrenia
Humans
Esquizofrènia
diagnóstico::técnicas y procedimientos diagnósticos::diagnóstico por imagen::tomografía::imagen por resonancia magnética [TÉCNICAS Y EQUIPOS ANALÍTICOS
DIAGNÓSTICOS Y TERAPÉUTICOS]
Genetic Phenomena::Genotype::Haplotypes [PHENOMENA AND PROCESSES]
Mental Disorders::Schizophrenia Spectrum and Other Psychotic Disorders::Schizophrenia [PSYCHIATRY AND PSYCHOLOGY]
Zdroj: Scientia
Scientific Reports
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
ISSN: 2045-2322
Popis: The 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.
Databáze: OpenAIRE
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