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dc.contributor.authorPagerols, Mireiapt_BR
dc.contributor.authorRicharte, Vanesapt_BR
dc.contributor.authorSánchez-Mora, Cristinapt_BR
dc.contributor.authorRovira, Paulapt_BR
dc.contributor.authorSoler Artigas, Maríapt_BR
dc.contributor.authorGarcia-Martínez, Irispt_BR
dc.contributor.authorCalvo-Sánchez, Evapt_BR
dc.contributor.authorCorrales, Montserratpt_BR
dc.contributor.authorSilva, Bruna Santos dapt_BR
dc.contributor.authorMota, Nina Rothpt_BR
dc.contributor.authorVictor, Marcelo Moraespt_BR
dc.contributor.authorRohde, Luis Augusto Paimpt_BR
dc.contributor.authorGrevet, Eugenio Horáciopt_BR
dc.contributor.authorBau, Claiton Henrique Dottopt_BR
dc.contributor.authorCormand, Brupt_BR
dc.contributor.authorCasas, Miguelpt_BR
dc.contributor.authorRamos-Quiroga, Josep Antonipt_BR
dc.contributor.authorRibasés, Martapt_BR
dc.date.accessioned2018-09-13T02:31:27Zpt_BR
dc.date.issued2018pt_BR
dc.identifier.issn2045-2322pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/181897pt_BR
dc.description.abstractMethylphenidate (MPH) is the most frequently used pharmacological treatment in children with attention-deficit/hyperactivity disorder (ADHD). However, a considerable interindividual variability exists in clinical outcome. Thus, we performed a genome-wide association study of MPH efficacy in 173 ADHD paediatric patients. Although no variant reached genome-wide significance, the set of genes containing single-nucleotide polymorphisms (SNPs) nominally associated with MPH response (P < 0.05) was significantly enriched for candidates previously studied in ADHD or treatment outcome. We prioritised the nominally significant SNPs by functional annotation and expression quantitative trait loci (eQTL) analysis in human brain, and we identified 33 SNPs tagging cis-eQTL in 32 different loci (referred to as eSNPs and eGenes, respectively). Pathway enrichment analyses revealed an over-representation of genes involved in nervous system development and function among the eGenes. Categories related to neurological diseases, psychological disorders and behaviour were also significantly enriched. We subsequently meta-analysed the association with clinical outcome for the 33 eSNPs across the discovery sample and an independent cohort of 189 ADHD adult patients (target sample) and we detected 15 suggestive signals. Following this comprehensive strategy, our results provide a better understanding of the molecular mechanisms implicated in MPH treatment effects and suggest promising candidates that may encourage future studies.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofScientific reports. London. Vol. 8 (2018), 1881, 11 p.pt_BR
dc.rightsOpen Accessen
dc.subjectTranstorno do déficit de atenção com hiperatividadept_BR
dc.subjectMetilfenidatopt_BR
dc.subjectAdultopt_BR
dc.subjectPolimorfismo de nucleotídeo únicopt_BR
dc.titleIntegrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorderpt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001074363pt_BR
dc.type.originEstrangeiropt_BR


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