Alemany Navarro, M.Tubío Fungueiriño, M.Diz de Almeida, SilviaCruz, R.Lombroso, A.Real, E.Soria, V.Bertolín Triquell, SaraFernández Prieto, M.Alonso, P.Menchón Magriñá, José ManuelCarracedo, A.Segalàs, C.2023-07-192023-07-192023-07-011573-2517https://hdl.handle.net/2445/200901Background: 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.12 p.application/pdfengcc by (c) Alemany Navarro, M. et al., 2023http://creativecommons.org/licenses/by/3.0/es/GenòmicaNeurosi obsessivaNeurociència cognitivaGenomicsObsessive-compulsive disorderCognitive neuroscienceinfo:eu-repo/semantics/article2023-07-19info:eu-repo/semantics/openAccess37094658