Journal article
CNTNAP2 variants affect early language development in the general population.
- Abstract:
- Early language development is known to be under genetic influence, but the genes affecting normal variation in the general population remain largely elusive. Recent studies of disorder reported that variants of the CNTNAP2 gene are associated both with language deficits in specific language impairment (SLI) and with language delays in autism. We tested the hypothesis that these CNTNAP2 variants affect communicative behavior, measured at 2 years of age in a large epidemiological sample, the Western Australian Pregnancy Cohort (Raine) Study. Singlepoint analyses of 1149 children (606 males and 543 females) revealed patterns of association which were strikingly reminiscent of those observed in previous investigations of impaired language, centered on the same genetic markers and with a consistent direction of effect (rs2710102, P = 0.0239; rs759178, P = 0.0248). On the basis of these findings, we performed analyses of four-marker haplotypes of rs2710102-rs759178-rs17236239-rs2538976 and identified significant association (haplotype TTAA, P = 0.049; haplotype CGAG, [corrected] P = .0014). Our study suggests that common variants in the exon 13-15 region of CNTNAP2 influence early language acquisition, as assessed at age 2, in the general population. We propose that these CNTNAP2 variants increase susceptibility to SLI or autism when they occur together with other risk factors.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 487.0KB, Terms of use)
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- Publisher copy:
- 10.1111/j.1601-183X.2011.00684.x
Authors
- Publisher:
- Wiley
- Journal:
- Genes, brain, and behavior More from this journal
- Volume:
- 10
- Issue:
- 4
- Pages:
- 451-456
- Publication date:
- 2011-06-01
- DOI:
- EISSN:
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1601-183X
- ISSN:
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1601-1848
- Language:
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English
- Keywords:
- Pubs id:
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pubs:118054
- UUID:
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uuid:1d2aeb0c-42fe-4b9b-9d9c-36bb52491a49
- Local pid:
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pubs:118054
- Source identifiers:
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118054
- Deposit date:
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2013-05-20
Terms of use
- Copyright holder:
- Whitehouse, AJ et al
- Copyright date:
- 2011
- Notes:
- Copyright 2011 Whitehouse, AJ et al., Genes, Brain and Behavior. Copyright 2011 Blackwell Publishing Ltd and International Behavioural and Neural Genetics Society. 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.
- Licence:
- CC Attribution (CC BY)
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