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Open Access 01-12-2014 | Short report

Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10

Authors: Lina Jonsson, Anna Zettergren, Erik Pettersson, Daniel Hovey, Henrik Anckarsäter, Lars Westberg, Paul Lichtenstein, Sebastian Lundström, Jonas Melke

Published in: Molecular Autism | Issue 1/2014

Abstract

Background

Autistic-like traits (ALTs) are continuously distributed in the general population, with the autism spectrum disorder (ASD) at the upper extreme end. A genetic overlap has been shown between ALTs and ASD, indicating that common variation in ASD candidate genes may also influence ALTs. In our study, we have investigated the SNP rs4307059 that has been associated with both ALTs and ASD. In addition, we genotyped polymorphisms in a selection of genes involved in synaptic functioning, that is, SHANK3, RELN, and CNTNAP2, which repeatedly have been associated with ASD. The possible associations of these polymorphisms with ALTs, as well as genetic factors for neurodevelopmental problems (NDPs), were investigated in a large cohort from the general population: The Child and Adolescent Twin Study in Sweden. For analyses of ALTs and NDPs, 12,319 subjects (including 2,268 monozygotic (MZ) and 3,805 dizygotic (DZ) twin pairs) and 8,671 subjects (including 2,243 MZ and 2,044 DZ twin pairs), respectively, were included in the analyses.

Findings

We could not replicate the previous association between rs4307059 and social communication impairment. Moreover, common variations in CNTNAP2 (rs7794745 and rs2710102), RELN (rs362691), and SHANK3 (rs9616915) were not significantly associated with ALTs in our study.

Conclusions

Our results do not suggest that the investigated genes, which previously has been found associated with ASD diagnosis, have any major influence on ALTs in children from the general population.

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Title: Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10
Authors: Lina Jonsson
Anna Zettergren
Erik Pettersson
Daniel Hovey
Henrik Anckarsäter
Lars Westberg
Paul Lichtenstein
Sebastian Lundström
Jonas Melke
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: Molecular Autism / Issue 1/2014
Electronic ISSN: 2040-2392
DOI: https://doi.org/10.1186/2040-2392-5-55

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10

Abstract

Background

Findings

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Findings

Conclusions

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