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Common variation contributes to the genetic architecture of social communication traits.

ABSTRACT: Social communication difficulties represent an autistic trait that is highly heritable and persistent during the course of development. However, little is known about the underlying genetic architecture of this phenotype.We performed a genome-wide association study on parent-reported social communication problems using items of the children's communication checklist (age 10 to 11 years) studying single and/or joint marker effects. Analyses were conducted in a large UK population-based birth cohort (Avon Longitudinal Study of Parents and their Children, ALSPAC, N = 5,584) and followed-up within a sample of children with comparable measures from Western Australia (RAINE, N = 1364).Two of our seven independent top signals (P-discovery <1.0E-05) were replicated (0.009

SUBMITTER: St Pourcain B

PROVIDER: S-EPMC3853437 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature

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Common variation contributes to the genetic architecture of social communication traits.

St Pourcain Beate B Whitehouse Andrew J O AJ Ang Wei Q WQ Warrington Nicole M NM Glessner Joseph T JT Wang Kai K Timpson Nicholas J NJ Evans David M DM Kemp John P JP Ring Susan M SM McArdle Wendy L WL Golding Jean J Hakonarson Hakon H Pennell Craig E CE Smith George Davey GD

Molecular autism 20130918 1

<h4>Background</h4>Social communication difficulties represent an autistic trait that is highly heritable and persistent during the course of development. However, little is known about the underlying genetic architecture of this phenotype.<h4>Methods</h4>We performed a genome-wide association study on parent-reported social communication problems using items of the children's communication checklist (age 10 to 11 years) studying single and/or joint marker effects. Analyses were conducted in a l ...[more]

PMID: 24047820

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Project description:Social-communication abilities are heritable traits, and their impairments overlap with the autism continuum. To characterise the genetic architecture of social-communication difficulties developmentally and identify genetic links with the autistic dimension, we conducted a genome-wide screen of social-communication problems at multiple time-points during childhood and adolescence.Social-communication difficulties were ascertained at ages 8, 11, 14 and 17 years in a UK population-based birth cohort (Avon Longitudinal Study of Parents and Children; N???5,628) using mother-reported Social Communication Disorder Checklist scores. Genome-wide Complex Trait Analysis (GCTA) was conducted for all phenotypes. The time-points with the highest GCTA heritability were subsequently analysed for single SNP association genome-wide. Type I error in the presence of measurement relatedness and the likelihood of observing SNP signals near known autism susceptibility loci (co-location) were assessed via large-scale, genome-wide permutations. Association signals (P???10-5) were also followed up in Autism Genetic Resource Exchange pedigrees (N?=?793) and the Autism Case Control cohort (Ncases/Ncontrols?=?1,204/6,491).GCTA heritability was strongest in childhood (h2(8 years)?=?0.24) and especially in later adolescence (h2(17 years)?=?0.45), with a marked drop during early to middle adolescence (h2(11 years)?=?0.16 and h2(14 years)?=?0.08). Genome-wide screens at ages 8 and 17 years identified for the latter time-point evidence for association at 3p22.2 near SCN11A (rs4453791, P?=?9.3?×?10-9; genome-wide empirical P?=?0.011) and suggestive evidence at 20p12.3 at PLCB1 (rs3761168, P?=?7.9?×?10-8; genome-wide empirical P?=?0.085). None of these signals contributed to risk for autism. However, the co-location of population-based signals and autism susceptibility loci harbouring rare mutations, such as PLCB1, is unlikely to be due to chance (genome-wide empirical Pco-location?=?0.007).Our findings suggest that measurable common genetic effects for social-communication difficulties vary developmentally and that these changes may affect detectable overlaps with the autism spectrum.

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Common variation contributes to the genetic architecture of social communication traits.

Publications

Common variation contributes to the genetic architecture of social communication traits.

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