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dc.contributor.authorGonzález-Peñas, J.
dc.contributor.authorCostas Costas, Javier 
dc.contributor.authorGarcía-Alcón, A.
dc.contributor.authorPenzol, M. J.
dc.contributor.authorRodríguez López, Julio
dc.contributor.authorRodríguez-Fontenla, C.
dc.contributor.authorAlonso-González, A.
dc.contributor.authorFernández-Prieto, M.
dc.contributor.authorCarracedo Álvarez, Ángel
dc.contributor.authorArango, C.
dc.contributor.authorParellada, M.
dc.date.accessioned2022-04-26T07:42:55Z
dc.date.available2022-04-26T07:42:55Z
dc.date.issued2020
dc.identifier.issn2158-3188
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/32732888es
dc.identifier.urihttp://hdl.handle.net/20.500.11940/16517
dc.description.abstractThere is great phenotypic heterogeneity within autism spectrum disorders (ASD), which has led to question their classification into a single diagnostic category. The study of the common genetic variation in ASD has suggested a greater contribution of other psychiatric conditions in Asperger syndrome (AS) than in the rest of the DSM-IV ASD subtypes (Non_AS). Here, using available genetic data from previously performed genome-wide association studies (GWAS), we aimed to study the genetic overlap between five of the most related disorders (schizophrenia (SCZ), major depression disorder (MDD), attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorders (OCD) and anxiety (ANX)), and AS, comparing it with the overlap in Non_AS subtypes. A Spanish cohort of autism trios (N = 371) was exome sequenced as part of the Autism Sequencing Consortium (ASC) and 241 trios were extensively characterized to be diagnosed with AS following DSM-IV and Gillberg's criteria (N = 39) or not (N = 202). Following exome imputation, polygenic risk scores (PRS) were calculated for ASD, SCZ, ADHD, MDD, ANX, and OCD (from available summary data from Psychiatric Genomic Consortium (PGC) repository) in the Spanish trios' cohort. By using polygenic transmission disequilibrium test (pTDT), we reported that risk for SCZ (Pscz = 0.008, corrected-PSCZ = 0.0409), ADHD (PADHD = 0.021, corrected-PADHD = 0.0301), and MDD (PMDD = 0.039, corrected-PMDD = 0.0501) is over-transmitted to children with AS but not to Non_AS. Indeed, agnostic clustering procedure with deviation values from pTDT tests suggested two differentiated clusters of subjects, one of which is significantly enriched in AS (P = 0.025). Subsequent analysis with S-Predixcan, a recently developed software to predict gene expression from genotype data, revealed a clear pattern of correlation between cortical gene expression in ADHD and AS (P < 0.001) and a similar strong correlation pattern between MDD and AS, but also extendable to another non-brain tissue such as lung (P < 0.001). Altogether, these results support the idea of AS being qualitatively distinct from Non_AS autism and consistently evidence the genetic overlap between AS and ADHD, MDD, or SCZ.en
dc.rightsAtribución 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subject.meshHumans*
dc.subject.meshMultifactorial Inheritance*
dc.subject.meshGenome-Wide Association Study*
dc.titlePsychiatric comorbidities in Asperger syndrome are related with polygenic overlap and differ from other Autism subtypesen
dc.typeJournal Articlees
dc.authorsophosGonzález-Peñas, J.;Costas, J. C.;García-Alcón, A.;Penzol, M. J.;Rodríguez, J.;Rodríguez-Fontenla, C.;Alonso-González, A.;Fernández-Prieto, M.;Carracedo, Á;Arango, C.;Parellada, M.
dc.identifier.doi10.1038/s41398-020-00939-7
dc.identifier.pmid32732888
dc.identifier.sophos39111
dc.issue.number1es
dc.journal.titleTranslational psychiatryes
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS)es
dc.page.initial258es
dc.rights.accessRightsopenAccess
dc.subject.decshumanos*
dc.subject.decsestudio de asociación genómica completa*
dc.subject.decsherencia multifactorial*
dc.subject.keywordIDISes
dc.typefidesArtículo Originales
dc.typesophosArtículo Originales
dc.volume.number10es


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