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
- Citations
- 0
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
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- The copy number variant architecture of psychopathology and cognitive development in the ABCD study
Zhiqiang Sha, Kevin Y. Sun, … Aaron F. Alexander‐Bloch·medRxiv·May 14, 2024
- Genotype-phenotype relationships in children with Copy Number Variants associated with high neuropsychiatric risk: Findings from the case-control IMAGINE-ID cohort in the United Kingdom
Samuel J. R. A. Chawner, Michael John Owen, … Marianne B. M. van den Bree·The Lancet PsychiatryPeer-reviewed·May 2, 2019
- A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits
Omar Shanta, Marieke Klein, … Annette M. Hartmann·medRxiv·Jul 11, 2025
- Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects
Worrawat Engchuan, Omar Shanta, … Michael Foster Green·medRxiv·Jul 11, 2025
- Coordination difficulties, IQ and psychopathology in children with high-risk Copy Number Variants
Adam C. Cunningham, Jérémy Hall, … Marianne B. M. van den Bree·Psychological MedicinePeer-reviewed·Nov 19, 2019
- Copy number variation and neurodevelopmental problems in females and males in the general population
Joanna Martin, Kristiina Tammimies, … Patrik K. E. Magnusson·European NeuropsychopharmacologyPeer-reviewed·Jan 1, 2019