title: 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.
authors.affiliation: Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Australia. awhitehouse@ichr.uwa.edu.au
authors.forename: A J O
authors.initials: AJ
authors.lastname: Whitehouse
authors.forename: D V M
authors.initials: DV
authors.lastname: Bishop
authors.forename: Q W
authors.initials: QW
authors.lastname: Ang
authors.forename: C E
authors.initials: CE
authors.lastname: Pennell
authors.forename: S E
authors.initials: SE
authors.lastname: Fisher
mesh_terms: D001315:Australia; D001321:Autistic Disorder / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007804:Language Development; D007805:Language Development Disorders / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012307:Risk Factors
chemical_list: C403049:CNTNAP2 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins