ArticleMolecular psychiatry2021
Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability.
Article in Molecular psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 65 citations in OpenAlex.
- Common genetic variants are associated with increased likelihood of latent co-occurring neurodevelopmental and mental health factors among autistic individuals.Molecular psychiatry · 2026Article
- Determinants of functional burden pleiotropy and gene dosage responses across human traits.Nature communications · 2026Article
- Linking rare variants to cell-type function in profound autism with brain transcriptomics and foundation models.Cell genomics · 2026Review
- The Association of Environmental Variables with Intelligence and Well-Being in Copy Number Variation (CNV) Carriers.Research square · 2026Article
- A pattern-learning algorithm associates copy number variations with brain structure and behavioural variables in an adolescent population cohort.Nature biomedical engineering · 2026Article
- Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.Research square · 2025Article
- Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.bioRxiv : the preprint server for biology · 2025Article
- The interplay between genomic copy number variants, sleep, and cognition in the general population.Translational psychiatry · 2025Article
- Genetic modulation of brain dynamics in neurodevelopmental disorders: the impact of copy number variations on resting-state EEG.Translational psychiatry · 2025Article
- Genetic advances in neurodevelopmental disorders.Medical review (2021) · 2025Review
- Copy number variants and the tangential expansion of the cerebral cortex.Nature communications · 2025Article
- Shared genetic architecture and bidirectional clinical risks within the psycho-metabolic nexus.EBioMedicine · 2025Article
- Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes.Cell genomics · 2024Article
- Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs).Translational psychiatry · 2024Article
- Influencing factors, gender differences and the decomposition of inequalities in cognitive function in Chinese older adults: a population-based cohort study.BMC geriatrics · 2024Article
- Using rare genetic mutations to revisit structural brain asymmetry.Nature communications · 2024Article
- Challenges in multi-task learning for fMRI-based diagnosis: Benefits for psychiatric conditions and CNVs would likely require thousands of patients.Imaging neuroscience (Cambridge, Mass.) · 2024Article
- Population Neuroscience: Principles and Advances.Current topics in behavioral neurosciences · 2024Review
- Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability.Frontiers in psychiatry · 2024Article
- Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability.medRxiv : the preprint server for health sciences · 2023Article
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Authors and funding
39 authors at 13 institutions in 4 countries.
Funding
Abstract
Genomic copy number variants (CNVs) are routinely identified and reported back to patients with neuropsychiatric disorders, but their quantitative effects on essential traits such as cognitive ability are poorly documented. We have recently shown that the effect size of deletions on cognitive ability can be statistically predicted using measures of intolerance to haploinsufficiency. However, the effect sizes of duplications remain unknown. It is also unknown if the effect of multigenic CNVs are driven by a few genes intolerant to haploinsufficiency or distributed across tolerant genes as well. Here, we identified all CNVs > 50 kilobases in 24,092 individuals from unselected and autism cohorts with assessments of general intelligence. Statistical models used measures of intolerance to haploinsufficiency of genes included in CNVs to predict their effect size on intelligence. Intolerant genes decrease general intelligence by 0.8 and 2.6 points of intelligence quotient when duplicated or deleted, respectively. Effect sizes showed no heterogeneity across cohorts. Validation analyses demonstrated that models could predict CNV effect sizes with 78% accuracy. Data on the inheritance of 27,766 CNVs showed that deletions and duplications with the same effect size on intelligence occur de novo at the same frequency. We estimated that around 10,000 intolerant and tolerant genes negatively affect intelligence when deleted, and less than 2% have large effect sizes. Genes encompassed in CNVs were not enriched in any GOterms but gene regulation and brain expression were GOterms overrepresented in the intolerant subgroup. Such pervasive effects on cognition may be related to emergent properties of the genome not restricted to a limited number of biological pathways.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.