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    Genetic Copy Number Variation and General Cognitive Ability

    Montgomery, Courtney G. and MacLeod, Andrew K. and Davies, Gail and Payton, Antony and Tenesa, Albert and Harris, Sarah E. and Liewald, David and Ke, Xiayi and Luciano, Michelle and Lopez, Lorna M. and Gow, Alan J. and Corley, Janie and Redmond, Paul and McNeill, Geraldine and Pickles, Andrew and Ollier, William and Horan, Michael and Starr, John M. and Pendleton, Neil and Thomson, Pippa A. and Porteous, David J. and Deary, Ian J. (2012) Genetic Copy Number Variation and General Cognitive Ability. PLoS ONE, 7 (12). pp. 1-9. ISSN 1932-6203

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    Differences in genomic structure between individuals are ubiquitous features of human genetic variation. Specific copy number variants (CNVs) have been associated with susceptibility to numerous complex psychiatric disorders, including attention-deficit-hyperactivity disorder, autism-spectrum disorders and schizophrenia. These disorders often display co-morbidity with low intelligence. Rare chromosomal deletions and duplications are associated with these disorders, so it has been suggested that these deletions or duplications may be associated with differences in intelligence. Here we investigate associations between large (≥500kb), rare (<1% population frequency) CNVs and both fluid and crystallized intelligence in community-dwelling older people. We observe no significant associations between intelligence and total CNV load. Examining individual CNV regions previously implicated in neuropsychological disorders, we find suggestive evidence that CNV regions around SHANK3 are associated with fluid intelligence as derived from a battery of cognitive tests. This is the first study to examine the effects of rare CNVs as called by multiple algorithms on cognition in a large non-clinical sample, and finds no effects of such variants on general cognitive ability.

    Item Type: Article
    Keywords: Genetic; Copy Number; Variation; General; Cognitive Ability;
    Academic Unit: Faculty of Science and Engineering > Biology
    Faculty of Science and Engineering > Research Institutes > Human Health Institute
    Item ID: 17393
    Identification Number:
    Depositing User: Lorna Lopez
    Date Deposited: 10 Jul 2023 13:39
    Journal or Publication Title: PLoS ONE
    Publisher: Public Library of Science
    Refereed: Yes
    Use Licence: This item is available under a Creative Commons Attribution Non Commercial Share Alike Licence (CC BY-NC-SA). Details of this licence are available here

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