MacLeod, AK;
Davies, G;
Payton, A;
Tenesa, A;
Harris, SE;
Liewald, D;
Ke, X;
... Deary, IJ; + view all
(2012)
Genetic copy number variation and general cognitive ability.
PLoS One
, 7
(12)
, Article e37385. 10.1371/journal.pone.0037385.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Genetic copy number variation and general cognitive ability. |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1371/journal.pone.0037385 |
| Publisher version: | http://dx.doi.org/10.1371/journal.pone.0037385 |
| Language: | English |
| Additional information: | © 2012 MacLeod et al. 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 credited. Genotyping and analyses of the cohorts conducted here were supported by the UK's Biotechnology and Biological Sciences Research Council (BBSRC). ML is a Royal Society of Edinburgh/Lloyds TSB Foundation for Scotland Personal Research Fellow. PAT is partially funded by an RCUK Fellowship. LML is funded by the AXA research fund. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. |
| UCL classification: | UCL |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1382883 |
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