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

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

Author Lima, Leandro de Araujo Google Scholar
Feio-dos-Santos, Ana Cecilia Google Scholar
Belangero, Sintia Iole Autor UNIFESP Google Scholar
Gadelha, Ary Autor UNIFESP Google Scholar
Bressan, Rodrigo Affonseca Autor UNIFESP Google Scholar
Salum, Giovanni Abrahao Google Scholar
Pan, Pedro Mario Autor UNIFESP Google Scholar
Moriyama, Tais Silveira Autor UNIFESP Google Scholar
Graeff-Martins, Ana Soledade Google Scholar
Tamanaha, Ana Carina Autor UNIFESP Google Scholar
Alvarenga, Pedro Google Scholar
Krieger, Fernanda Valle Google Scholar
Fleitlich-Bilyk, Bacy Google Scholar
Jackowski, Andrea Parolin Autor UNIFESP Google Scholar
Brietzke, Elisa Autor UNIFESP Google Scholar
Sato, Joao Ricardo Google Scholar
Polanczyk, Guilherme Vanoni Google Scholar
Mari, Jair de Jesus Autor UNIFESP Google Scholar
Manfro, Gisele Gus Autor UNIFESP Google Scholar
do Rosario, Maria Conceicao Autor UNIFESP Google Scholar
Miguel, Euripedes Constantino Google Scholar
Puga, Renato David Google Scholar
Tahira, Ana Carolina Google Scholar
Souza, Viviane Neri Google Scholar
Chile, Thais Google Scholar
Gouveia, Gisele Rodrigues Google Scholar
Simoes, Sergio Nery Google Scholar
Chang, Xiao Google Scholar
Pellegrino, Renata Google Scholar
Tian, Lifeng Google Scholar
Glessner, Joseph T. Google Scholar
Hashimoto, Ronaldo Fumio Google Scholar
Rohde, Luis Augusto Autor UNIFESP Google Scholar
Sleiman, Patrick M. A. Google Scholar
Hakonarson, Hakon Google Scholar
Brentani, Helena Google Scholar
Abstract Many 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.
xmlui.dri2xhtml.METS-1.0.item-coverage London
Language English
Sponsor National Institute of Developmental Psychiatry for Children and Adolescents
Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq
National Council for Scientific and Technological Development)
Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP
Research Support Foundation of the State of Sao Paulo
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CAPES)
Grant number National Council for Scientific and Technological Development: 573974/2008-0
FAPESP: 2008/57896-8
CAPES: 10682/13-9
Date 2016
Published in Scientific Reports. London, v. 6, p. -, 2016.
ISSN 2045-2322 (Sherpa/Romeo, impact factor)
Publisher Nature Publishing Group
Extent -
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000371466600001

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