Genetic Copy Number Variation and General Cognitive Ability

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 disord...

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Main Authors: MacLeod, Andrew K., Davies, Gail, Payton, Antony, Tenesa, Albert, Harris, Sarah E., Liewald, David, Ke, Xiayi, Luciano, Michelle, Lopez, Lorna M., Gow, Alan J., Corley, Janie, Redmond, Paul, McNeill, Geraldine, Pickles, Andrew, Ollier, William, Horan, Michael, Starr, John M., Pendleton, Neil, Thomson, Pippa A., Porteous, David J., Deary, Ian J.
Format: Online
Language:English
Published: Public Library of Science 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530597/
id pubmed-3530597
recordtype oai_dc
spelling pubmed-35305972013-01-08 Genetic Copy Number Variation and General Cognitive Ability MacLeod, Andrew K. Davies, Gail Payton, Antony Tenesa, Albert Harris, Sarah E. Liewald, David Ke, Xiayi Luciano, Michelle Lopez, Lorna M. Gow, Alan J. Corley, Janie Redmond, Paul McNeill, Geraldine Pickles, Andrew Ollier, William Horan, Michael Starr, John M. Pendleton, Neil Thomson, Pippa A. Porteous, David J. Deary, Ian J. Research Article 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. Public Library of Science 2012-12-26 /pmc/articles/PMC3530597/ /pubmed/23300510 http://dx.doi.org/10.1371/journal.pone.0037385 Text en © 2012 MacLeod et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author MacLeod, Andrew K.
Davies, Gail
Payton, Antony
Tenesa, Albert
Harris, Sarah E.
Liewald, David
Ke, Xiayi
Luciano, Michelle
Lopez, Lorna M.
Gow, Alan J.
Corley, Janie
Redmond, Paul
McNeill, Geraldine
Pickles, Andrew
Ollier, William
Horan, Michael
Starr, John M.
Pendleton, Neil
Thomson, Pippa A.
Porteous, David J.
Deary, Ian J.
spellingShingle MacLeod, Andrew K.
Davies, Gail
Payton, Antony
Tenesa, Albert
Harris, Sarah E.
Liewald, David
Ke, Xiayi
Luciano, Michelle
Lopez, Lorna M.
Gow, Alan J.
Corley, Janie
Redmond, Paul
McNeill, Geraldine
Pickles, Andrew
Ollier, William
Horan, Michael
Starr, John M.
Pendleton, Neil
Thomson, Pippa A.
Porteous, David J.
Deary, Ian J.
Genetic Copy Number Variation and General Cognitive Ability
author_facet MacLeod, Andrew K.
Davies, Gail
Payton, Antony
Tenesa, Albert
Harris, Sarah E.
Liewald, David
Ke, Xiayi
Luciano, Michelle
Lopez, Lorna M.
Gow, Alan J.
Corley, Janie
Redmond, Paul
McNeill, Geraldine
Pickles, Andrew
Ollier, William
Horan, Michael
Starr, John M.
Pendleton, Neil
Thomson, Pippa A.
Porteous, David J.
Deary, Ian J.
author_sort MacLeod, Andrew K.
title Genetic Copy Number Variation and General Cognitive Ability
title_short Genetic Copy Number Variation and General Cognitive Ability
title_full Genetic Copy Number Variation and General Cognitive Ability
title_fullStr Genetic Copy Number Variation and General Cognitive Ability
title_full_unstemmed Genetic Copy Number Variation and General Cognitive Ability
title_sort genetic copy number variation and general cognitive ability
description 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.
publisher Public Library of Science
publishDate 2012
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530597/
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