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dc.contributor.authorMartin, Joanna
dc.contributor.authorCooper, Miriam
dc.contributor.authorHamshere, Marian L.
dc.contributor.authorPocklington, Andrew
dc.contributor.authorScherer, Stephen W.
dc.contributor.authorKent, Lindsey
dc.contributor.authorGill, Michael
dc.contributor.authorOwen, Michael J.
dc.contributor.authorWilliams, Nigel
dc.contributor.authorO'Donovan, Michael C.
dc.contributor.authorThapar, Anita
dc.contributor.authorHolmans, Peter
dc.identifier.citationMartin , J , Cooper , M , Hamshere , M L , Pocklington , A , Scherer , S W , Kent , L , Gill , M , Owen , M J , Williams , N , O'Donovan , M C , Thapar , A & Holmans , P 2014 , ' Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder : evidence from copy number variants ' , Journal of the American Academy of Child and Adolescent Psychiatry , vol. 53 , no. 7 , pp. 761-770 .
dc.identifier.otherORCID: /0000-0002-5315-3399/work/60195357
dc.description.abstractObjective: Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) often co-occur and share genetic risks. The aim of this analysis was to determine more broadly whether ADHD and ASD share biological underpinnings. Method: We compared copy number variant (CNV) data from 727 children with ADHD and 5,081 population controls to data from 996 individuals with ASD and an independent set of 1,287 controls. Using pathway analyses, we investigated whether CNVs observed in individuals with ADHD have an impact on genes in the same biological pathways as on those observed in individuals with ASD. Results: The results suggest that the biological pathways affected by CNVs in ADHD overlap with those affected by CNVs in ASD more than would be expected by chance. Moreover, this was true even when specific CNV regions common to both disorders were excluded from the analysis. After correction for multiple testing, genes involved in 3 biological processes (nicotinic acetylcholine receptor signalling pathway, cell division, and response to drug) showed significant enrichment for case CNV hits in the combined ADHD and ASD sample. Conclusion: The results of this study indicate the presence of significant overlap of shared biological processes disrupted by large rare CNVs in children with these 2 neurodevelopmental conditions.
dc.relation.ispartofJournal of the American Academy of Child and Adolescent Psychiatryen
dc.subjectPathway analysisen
dc.subjectR Medicineen
dc.titleBiological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder : evidence from copy number variantsen
dc.typeJournal articleen
dc.contributor.institutionUniversity of St Andrews. School of Medicineen
dc.contributor.institutionUniversity of St Andrews. Institute of Behavioural and Neural Sciencesen
dc.description.statusPeer revieweden

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