Copy Number Variants in Brain-Related Genes Are Associated with Neuropsychiatric Traits in Childhood

Come and view this poster at the APSARD Annual Meeting this January 12 – 14, 2018 at the Marriott Wardman Park.

Burton, C., Schachar, R., Zarrei, M., Engchuan, W., Merico, D., MacDonald, J., Xiao, B., Paterson, A., Strung, L., Marshall, C., Crosbie, J., Arnold, P., Scherer, S.
Copy number variants (CNVs) are potentially pathogenic duplications and deletions in the genome that have been found at increased rate in attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD) and autism-spectrum disorder (ASD). To further understand the impact of CNVs on ADHD there is a need for studies of the relationship of CNVs and ADHD in the general population rather than exclusively in clinic samples. For the first time, we report the relationship of CNVs to ADHD in a large community-based sample of children and adolescents with psychiatric phenotype and genotype data (> 5,000). We also report the association of CNVs to response inhibition (stop signal reaction time) measured in a simple computerized task (stop-signal task) because it is an established biomarker of ADHD. ADHD traits were associated with increased CNV deletions, particularly those > 500kb (p=0.014) known to affect synaptic transmission and nervous system development while response inhibition was associated with an increased burden of duplications (p=0.004) in genes known to play a role in neuronal projection, axon guidance and neurofunction in mice. These results highlight the relationship between rare variants and psychiatric traits and provide a context for further research into ADHD’s cause and into the utility of microarrays in clinical practice.

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