CNTNAP2 variants affect early language development in the general population
Open accessAbstract
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.
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Two common polymorphisms in a relatively circumscribed area of CNTNAP2 modulate language function in ASD and other conditions.
“Two common polymorphisms in a relatively circumscribed area of CNTNAP2 have been shown to modulate language function in ASD and other conditions [59–61].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [60]
The same allele that increases risk for language delay in ASD increases risk for specific language impairment and modifies language ability in the general population.
“Several groups have demonstrated that this is indeed the case with respect to CNTNAP2 [60, 61, 63], as the same allele that increases risk for language delay in ASD, increases risk for specific language impairment (SLI) and modifies language ability in the general population.”
From Genetics of autism spectrum disorders (2011) · cites this paper as [60]
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- Authors
- Whitehouse, A. J. O., Bishop, D. V. M., Ang, Q. W., Pennell, C. E., & Fisher, S. E.
- Affiliations
- The Kids Research Institute Australia (AU)
- The University of Western Australia (AU)
- Centre for Human Genetics (GB)
- Corresponding author
- Whitehouse, A. J. O.
- Venue
- Genes, Brain and Behavior
- Publisher
- Wiley
- Published
- 2011-03-01
- Volume
- 10
- Issue
- 4
- Pages
- 451-456
- ISSN
- 1601-183X (ISSN-L)
- 1601-1848
- PMC
- PMC3130139
- OpenAlex
- W2027903201
- Cited by
- 170
- References
- 27
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 5 · 2023: 8 · 2022: 8 · 2021: 12 · 2020: 10 · 2019: 4 · 2018: 14 · 2017: 9 · 2016: 17 · 2015: 16 · 2014: 16 · 2013: 24 · 2012: 19
- FWCI
- 40.73
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Genes Brain & Behavior (publishedVersion)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- UWA Profiles and Research Repository (UWA) (submittedVersion)
- Max Planck Digital Library (submittedVersion, other-oa)
- MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
- Funders
- Simons Foundation
- Wellcome Trust (082498/Z/07/Z, 082498)
- Simons Foundation Autism Research Initiative
- Royal Society
- Raine Medical Research Foundation
- Max-Planck-Gesellschaft
- Medical Research Council
- National Health and Medical Research Council (572613)
- Topics
- Social Sciences › Psychology › Developmental and Educational Psychology › Language Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Social Sciences › Psychology › Developmental and Educational Psychology › Reading and Literacy Development
- Keywords
- CNTNAP2, early childhood language development, language acquisition, single nucleotide polymorphisms, haplotype association, specific language impairment, autism spectrum disorder, genetic susceptibility
- MeSH terms
- Australia, Autistic Disorder, Child, Preschool, Female, Genotype, Haplotypes, Humans, Language Development, Language Development Disorders, Male, Membrane Proteins, Nerve Tissue Proteins, Risk Factors, Genetic Variation, Genetic Predisposition to Disease, Genetic Association Studies
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