An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder

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dc.citation.volume6
dc.contributor.authorLima, Leandro de Araujo
dc.contributor.authorFeio-dos-Santos, Ana Cecilia
dc.contributor.authorBelangero, Sintia Iole [UNIFESP]
dc.contributor.authorGadelha, Ary [UNIFESP]
dc.contributor.authorBressan, Rodrigo Affonseca [UNIFESP]
dc.contributor.authorSalum, Giovanni Abrahao
dc.contributor.authorPan, Pedro Mario [UNIFESP]
dc.contributor.authorMoriyama, Tais Silveira [UNIFESP]
dc.contributor.authorGraeff-Martins, Ana Soledade
dc.contributor.authorTamanaha, Ana Carina [UNIFESP]
dc.contributor.authorAlvarenga, Pedro
dc.contributor.authorKrieger, Fernanda Valle
dc.contributor.authorFleitlich-Bilyk, Bacy
dc.contributor.authorJackowski, Andrea Parolin [UNIFESP]
dc.contributor.authorBrietzke, Elisa [UNIFESP]
dc.contributor.authorSato, Joao Ricardo
dc.contributor.authorPolanczyk, Guilherme Vanoni
dc.contributor.authorMari, Jair de Jesus [UNIFESP]
dc.contributor.authorManfro, Gisele Gus [UNIFESP]
dc.contributor.authordo Rosario, Maria Conceicao [UNIFESP]
dc.contributor.authorMiguel, Euripedes Constantino
dc.contributor.authorPuga, Renato David
dc.contributor.authorTahira, Ana Carolina
dc.contributor.authorSouza, Viviane Neri
dc.contributor.authorChile, Thais
dc.contributor.authorGouveia, Gisele Rodrigues
dc.contributor.authorSimoes, Sergio Nery
dc.contributor.authorChang, Xiao
dc.contributor.authorPellegrino, Renata
dc.contributor.authorTian, Lifeng
dc.contributor.authorGlessner, Joseph T.
dc.contributor.authorHashimoto, Ronaldo Fumio
dc.contributor.authorRohde, Luis Augusto [UNIFESP]
dc.contributor.authorSleiman, Patrick M. A.
dc.contributor.authorHakonarson, Hakon
dc.contributor.authorBrentani, Helena
dc.coverageLondon
dc.date.accessioned2020-08-21T16:59:53Z
dc.date.available2020-08-21T16:59:53Z
dc.date.issued2016
dc.description.abstractMany studies have attempted to investigate the genetic susceptibility of Attention-Deficit/Hyperactivity Disorder (ADHD), but without much success. The present study aimed to analyze both single-nucleotide and copy-number variants contributing to the genetic architecture of ADHD. We generated exome data from 30 Brazilian trios with sporadic ADHD. We also analyzed a Brazilian sample of 503 children/adolescent controls from a High Risk Cohort Study for the Development of Childhood Psychiatric Disorders, and also previously published results of five CNV studies and one GWAS meta-analysis of ADHD involving children/adolescents. The results from the Brazilian trios showed that cases with de novo SNVs tend not to have de novo CNVs and vice-versa. Although the sample size is small, we could also see that various comorbidities are more frequent in cases with only inherited variants. Moreover, using only genes expressed in brain, we constructed two "in silico" protein-protein interaction networks, one with genes from any analysis, and other with genes with hits in two analyses. Topological and functional analyses of genes in this network uncovered genes related to synapse, cell adhesion, glutamatergic and serotoninergic pathways, both confirming findings of previous studies and capturing new genes and genetic variants in these pathways.en
dc.description.affiliationUniv Sao Paulo, Interinst Grad Program Bioinformat, Sao Paulo, SP, Brazil
dc.description.affiliationChildrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA
dc.description.affiliationUniv Sao Paulo, Sch Med, Dept & Inst Psychiat, Sao Paulo, SP, Brazil
dc.description.affiliationKrieger, Natl Inst Dev Psychiat Children & Adolescents INC, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Fed Rio Grande do Sul, Dept Psychiat, Hosp Clin Porto Alegre, Porto Alegre, RS, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Dept Psychiat, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Fed ABC, Ctr Math Computat & Cognit, Santo Andre, Brazil
dc.description.affiliationHosp Israelita Albert Einstein, Clin Res, Sao Paulo, SP, Brazil
dc.description.affiliationFed Inst Espirito Santo, Serra, ES, Brazil
dc.description.affiliationUniv Sao Paulo, Math & Stat Inst, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Psychiat, Sao Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipNational Institute of Developmental Psychiatry for Children and Adolescents
dc.description.sponsorshipConselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq
dc.description.sponsorshipNational Council for Scientific and Technological Development)
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP
dc.description.sponsorshipResearch Support Foundation of the State of Sao Paulo
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CAPES)
dc.description.sponsorshipIDNational Council for Scientific and Technological Development: 573974/2008-0
dc.description.sponsorshipIDFAPESP: 2008/57896-8
dc.description.sponsorshipIDCAPES: 10682/13-9
dc.format.extent-
dc.identifierhttp://dx.doi.org/10.1038/srep22851
dc.identifier.citationScientific Reports. London, v. 6, p. -, 2016.
dc.identifier.doi10.1038/srep22851
dc.identifier.fileWOS000371466600001.pdf
dc.identifier.issn2045-2322
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/57797
dc.identifier.wosWOS:000371466600001
dc.language.isoeng
dc.publisherNature Publishing Group
dc.relation.ispartofScientific Reports
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleAn integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorderen
dc.typeinfo:eu-repo/semantics/article
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