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Associations between oxytocin-related genes and autistic-like traits.

Journal article
Authors Daniel Hovey
Anna Zettergren
Lina Jonsson
Jonas Melke
Henrik Anckarsäter
Paul Lichtenstein
Lars Westberg
Published in Social Neuroscience
Volume 9
Issue 4
Pages 378-386
ISSN 1747-0919
Publication year 2014
Published at Institute of Neuroscience and Physiology
Institute of Neuroscience and Physiology, Department of Pharmacology
Pages 378-386
Language en
Keywords Autism; Oxytocin; ARNT2; SIM1; CD38
Subject categories Neuroscience


Abstract Oxytocin has repeatedly been shown to influence human behavior in social contexts; also, a relationship between oxytocin and the pathophysiology of autism spectrum disorder (ASD) has been suggested. In the present study, we investigated single-nucleotide polymorphisms (SNPs) in the oxytocin gene (OXT) and the genes for single-minded 1 (SIM1), aryl hydrocarbon receptor nuclear translocator 2 (ARNT2) and cluster of differentiation 38 (CD38) in a population of 1771 children from the Child and Adolescent Twin Study in Sweden (CATSS). Statistical analyses were performed to investigate any association between SNPs and autistic-like traits (ALTs), measured through ASD scores in the Autism-Tics, ADHD and other Co-morbidities inventory. Firstly, we found a statistically significant association between the SIM1 SNP rs3734354 (Pro352Thr) and scores for language impairment (p = .0004), but due to low statistical power this should be interpreted cautiously. Furthermore, nominal associations were found between ASD scores and SNPs in OXT, ARNT2 and CD38. In summary, the present study lends support to the hypothesis that oxytocin and oxytocin neuron development may have an influence on the development of ALTs and suggests a new candidate gene in the search for the pathophysiology of ASD.

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