Associations between oxytocin-related genes and autistic-like traits

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.

Keywords:

• Autism
• Oxytocin
• ARNT2
• SIM1
• CD38

This work was supported by grants from the Swedish Research Council, Swedish Research Council for Working Life and Social Research, Swedish Brain Foundation, Svenska Sällskapet för Medicinsk Forskning (SSMF), Fredrik and Ingrid Thurings stiftelse, Åke Wibergs stiftelse, Åhlén-stiftelsen, Jeanssons-stiftelsen, Magnus Bergvalls stiftelse, Söderström-Königska stiftelsen, Märta Lundqvists stiftelse and the Novo Nordisk Foundation.The authors declare no conflicts of interest.

The authors declare no conflicts of interest.