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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/200901
The genomics of visuospatial neurocognition in obsessive-compulsive disorder: A preliminary GWAS
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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.
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ALEMANY NAVARRO, M., TUBÍO FUNGUEIRIÑO, M., DIZ DE ALMEIDA, Silvia, CRUZ, R., LOMBROSO, A., REAL, E., SORIA, V., BERTOLÍN TRIQUELL, Sara, FERNÁNDEZ PRIETO, M., ALONSO, P., MENCHÓN MAGRIÑÁ, José manuel, CARRACEDO, A., SEGALÀS, C.. The genomics of visuospatial neurocognition in obsessive-compulsive disorder: A preliminary GWAS. _Journal of Affective Disorders_. 2023. Vol. 333, núm. 365-376. [consulta: 30 de gener de 2026]. ISSN: 1573-2517. [Disponible a: https://hdl.handle.net/2445/200901]