SIRPB1 copy-number polymorphism as candidate quantitative trait locus for impulsive-disinhibited personality

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dc.contributor.author Laplana, M. es_ES
dc.contributor.author Royo, J. L. es_ES
dc.contributor.author García Rodríguez, Luis Francisco es_ES
dc.contributor.author Aluja, A. es_ES
dc.contributor.author Gomez-Skarmeta, J. L. es_ES
dc.contributor.author Fibla, J. es_ES
dc.contributor.other UAM. Departamento de Psicología Biológica y de la Salud es_ES
dc.date.accessioned 2015-07-21T10:09:13Z
dc.date.available 2015-07-21T10:09:13Z
dc.date.issued 2014-07-23
dc.identifier.citation Genes, Brain and Behavior 13.7 (2014): 653–662 en_US
dc.identifier.issn 1601-1848 (print) en_US
dc.identifier.issn 1601-183X (online) en_US
dc.identifier.uri http://hdl.handle.net/10486/667487 en_US
dc.description The version posted must contain the text This is the accepted version of the following article: [full citation], which has been published in final form at [Link to final article] en_US
dc.description.abstract Impulsive-disinhibited personality (IDP) is a behavioral trait mainly characterized by seeking immediate grati-fication at the expense of more enduring or long-term gains. This trait has a major role in the development of several disinhibitory behaviors and syndromes, including psychopathy, attention-deficit and hyperactivity disorder, cluster-B personality disorders, criminality and alcoholism. Available data consistently support a strong heritable component, accounting for 30–60% of the observed variance in personality traits. A genome-wide analysis of copy-number variants was designed to identify novel genetic pathways associated with the IDP trait, using a series of 261 male participants with maximized opposite IDP scores. Quantitative trait locus analysis of candidate copy-number variants (CNVs) was conducted across the entire IDP continuum. Functional effects of associated variants were evaluated in zebrafish embryos. A common CNV mapping to the immune-related gene SIRPB1 was significantly associated with IDP scores in a dose-dependent manner ((b = −0.172, P < 0.017). Expression quantitative trait locus analysis of the critical region revealed higher SIRPB1 mRNA levels associated with the haplotype containing the deleted allele (P < 0.0007). Epigenetic marks highlighted the presence of two potential insulators within the deleted region, confirmed by functional assays in zebrafish embryos, which suggests that SIRPB1 expression rates are affected by the presence/ absence of the insulator regions. Upregulation of SIRPB1 has been described in prefrontal cortex of patients with schizophrenia, providing a link between SIRPB1 and diseases involving disinhibition and failure to control impulsivity. We propose SIRPB1 as a novel candidate gene to account for phenotypic differences observed in the IDP trait. en_US
dc.description.sponsorship This study was founded by Fundació Marató TV3 (ref 200925-10). en_US
dc.format.extent 10 pag. es_ES
dc.format.mimetype application/pdf en_US
dc.language.iso eng en_US
dc.publisher Wiley-Blackwell en_US
dc.relation.ispartof Genes, Brain and Behavior en_US
dc.rights © 2014 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society en_US
dc.subject.other Association study en_US
dc.subject.other Behavior en_US
dc.subject.other CGH es_ES
dc.subject.other Copy-number variant en_US
dc.subject.other Disinhibition en_US
dc.subject.other eQTL es_ES
dc.subject.other Impulsivity en_US
dc.subject.other Insulator en_US
dc.subject.other Personality en_US
dc.subject.other SIRPB1 es_ES
dc.title SIRPB1 copy-number polymorphism as candidate quantitative trait locus for impulsive-disinhibited personality en_US
dc.type article en_US
dc.subject.eciencia Psicología es_ES
dc.relation.publisherversion http://dx.doi.org/10.1111/gbb.12154 en_US
dc.identifier.doi 10.1111/gbb.12154 es_ES
dc.identifier.publicationfirstpage 653 es_ES
dc.identifier.publicationissue 7 es_ES
dc.identifier.publicationlastpage 662 es_ES
dc.identifier.publicationvolume 13 es_ES
dc.type.version info:eu-repo/semantics/submittedVersion en_US
dc.rights.accessRights openAccess en_US
dc.authorUAM García Rodríguez, Luis Francisco (261596)


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