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. 2010 Nov;167(11):1364-72.
doi: 10.1176/appi.ajp.2010.09121789. Epub 2010 Jul 15.

Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population

Beate St Pourcain  1 , Kai Wang, Joseph T Glessner, Jean Golding, Colin Steer, Susan M Ring, David H Skuse, Struan F A Grant, Hakon Hakonarson, George Davey Smith
Affiliations

Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population

Beate St Pourcain et al. Am J Psychiatry. 2010 Nov.

Erratum in

  • Am J Psychiatry. 2010 Oct;167(10):1283. Smith, George D [corrected to Davey Smith, George]

Abstract

Objective: Recent genome-wide analysis identified a genetic variant on 5p14.1 (rs4307059), which is associated with risk for autism spectrum disorder. This study investigated whether rs4307059 also operates as a quantitative trait locus underlying a broader autism phenotype in the general population, focusing specifically on the social communication aspect of the spectrum.

Method: Study participants were 7,313 children from the Avon Longitudinal Study of Parents and Children. Single-trait and joint-trait genotype associations were investigated for 29 measures related to language and communication, verbal intelligence, social interaction, and behavioral adjustment, assessed between ages 3 and 12 years. Analyses were performed in one-sided or directed mode and adjusted for multiple testing, trait interrelatedness, and random genotype dropout.

Results: Single phenotype analyses showed that an increased load of rs4307059 risk allele is associated with stereotyped conversation and lower pragmatic communication skills, as measured by the Children's Communication Checklist (at a mean age of 9.7 years). In addition a trend toward a higher frequency of identification of special educational needs (at a mean age of 11.8 years) was observed. Variation at rs4307059 was also associated with the phenotypic profile of studied traits. This joint signal was fully explained neither by single-trait associations nor by overall behavioral adjustment problems but suggested a combined effect, which manifested through multiple sub-threshold social, communicative, and cognitive impairments.

Conclusions: Our results suggest that common variation at 5p14.1 is associated with social communication spectrum phenotypes in the general population and support the role of rs4307059 as a quantitative trait locus for autism spectrum disorder.

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Figures

FIGURE 1
FIGURE 1. Association Profile Between rs4307059 and Social Communication Spectrum Phenotypesa
a All p values are one-sided; dashed lines correspond to a p value threshold of 0.05. All spectrum phenotypes and their p values are numbered as outlined in Table 2. b SEN=special educational needs. c Inconsistent with an underlying autism spectrum disorder QTL.
See this image and copyright information in PMC

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