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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Autores principales: Andrew K MacLeod, Gail Davies, Antony Payton, Albert Tenesa, Sarah E Harris, David Liewald, Xiayi Ke, Michelle Luciano, Lorna M Lopez, Alan J Gow, Janie Corley, Paul Redmond, Geraldine McNeill, Andrew Pickles, William Ollier, Michael Horan, John M Starr, Neil Pendleton, Pippa A Thomson, David J Porteous, Ian J Deary
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Publicado: Public Library of Science (PLoS) 2012
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spelling oai:doaj.org-article:329512db8c22445eb0eedebcc80d79952021-11-18T08:03:50ZGenetic copy number variation and general cognitive ability.1932-620310.1371/journal.pone.0037385https://doaj.org/article/329512db8c22445eb0eedebcc80d79952012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23300510/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Differences 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.Andrew K MacLeodGail DaviesAntony PaytonAlbert TenesaSarah E HarrisDavid LiewaldXiayi KeMichelle LucianoLorna M LopezAlan J GowJanie CorleyPaul RedmondGeraldine McNeillAndrew PicklesWilliam OllierMichael HoranJohn M StarrNeil PendletonPippa A ThomsonDavid J PorteousIan J DearyPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 12, p e37385 (2012)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Andrew K MacLeod
Gail Davies
Antony Payton
Albert Tenesa
Sarah E Harris
David Liewald
Xiayi Ke
Michelle Luciano
Lorna M Lopez
Alan J Gow
Janie Corley
Paul Redmond
Geraldine McNeill
Andrew Pickles
William Ollier
Michael Horan
John M Starr
Neil Pendleton
Pippa A Thomson
David J Porteous
Ian J Deary
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.
format article
author Andrew K MacLeod
Gail Davies
Antony Payton
Albert Tenesa
Sarah E Harris
David Liewald
Xiayi Ke
Michelle Luciano
Lorna M Lopez
Alan J Gow
Janie Corley
Paul Redmond
Geraldine McNeill
Andrew Pickles
William Ollier
Michael Horan
John M Starr
Neil Pendleton
Pippa A Thomson
David J Porteous
Ian J Deary
author_facet Andrew K MacLeod
Gail Davies
Antony Payton
Albert Tenesa
Sarah E Harris
David Liewald
Xiayi Ke
Michelle Luciano
Lorna M Lopez
Alan J Gow
Janie Corley
Paul Redmond
Geraldine McNeill
Andrew Pickles
William Ollier
Michael Horan
John M Starr
Neil Pendleton
Pippa A Thomson
David J Porteous
Ian J Deary
author_sort Andrew K MacLeod
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.
publisher Public Library of Science (PLoS)
publishDate 2012
url https://doaj.org/article/329512db8c22445eb0eedebcc80d7995
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