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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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. |
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Open Access Journal |
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Foreign Institution |
institution |
US National Center for Biotechnology Information |
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NCBI PubMed |
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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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1611942799827009536 |