medRxivGenetic & Genomic MedicinePreprint
Gene copy number variation in pediatric mental illness in a general population
Mehdi Zarrei, Christie L. BurtoniD, Worrawat EngchuaniD, Edward J. HigginbothamiD, John WeiiD, Sabah Shaikh, Nicole M. RosliniD, Jeffrey R. MacDonaldiD, Giovanna PellecchiaiD, Thomas NalpathamkalamiD, Sylvia Lamoureux, Roozbeh ManshaeiiD, Jennifer Howe, Brett TrostiD, Bhooma ThiruvahindrapuramiD, Christian R. MarshalliD, Ryan K. C. YueniD, Richard F. WintleiD, Lisa J. StrugiD, Dimitri James StavropoulosiD, Jacob A. S. VorstmaniD, Paul Daniel ArnoldiD, Daniele MericoiD, Marc Woodbury‐SmithiD, Jennifer CrosbieiD, , Stephen W. SchereriD
Abstract
We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health, and cognitive biomarkers in a community sample of 7,100 unrelated European, and East Asian children and youth (Spit for Science). Diagnoses of mental health disorders were found in 17.5% of participants and 27.6% scored in the highest 10% on either or both ADHD and OCD trait measures. Clinically relevant CNVs were present in 3.9% of participants and were associated with elevated scores on a continuous measure of ADHD (p=5.0x10-3), on a cognitive biomarker of mental health (response inhibition (p=1.0x10-2)), and on prevalence of mental disorders (p=1.9x10-6, odds ratio: 3.09). With a rise of mental illness, our data establishes a baseline for delineating genetic contributors in paediatric-onset conditions. One Sentence SummaryCopy number variation predicts neurodevelopmental and mental health phenotypes in the general population.
- organism: human
- assay: whole-genome sequencing
- research focus: differential expression
- approach: statistical model
- Citations
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