title: 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.
authors.affiliation: a Department of Pharmacology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy , University of Gothenburg , Gothenburg , Sweden.
authors.forename: Daniel
authors.initials: D
authors.lastname: Hovey
authors.forename: Anna
authors.initials: A
authors.lastname: Zettergren
authors.forename: Lina
authors.initials: L
authors.lastname: Jonsson
authors.forename: Jonas
authors.initials: J
authors.lastname: Melke
authors.forename: Henrik
authors.initials: H
authors.lastname: Anckarsäter
authors.forename: Paul
authors.initials: P
authors.lastname: Lichtenstein
authors.forename: Lars
authors.initials: L
authors.lastname: Westberg
mesh_terms: D051997:ADP-ribosyl Cyclase 1 / Q000235:genetics*; D051784:Aryl Hydrocarbon Receptor Nuclear Translocator / Q000235:genetics*; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics* / Q000523:psychology; D005260:Female; D060005:Genotyping Techniques; D006801:Humans; D007407:Interviews as Topic; D007805:Language Development Disorders / Q000235:genetics; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D010121:Oxytocin / Q000235:genetics*; D010290:Parents; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012097:Repressor Proteins / Q000235:genetics*; D012919:Social Behavior; D013239:Stereotyped Behavior; D013548:Sweden
chemical_list: D051997:ADP-ribosyl Cyclase 1; D051784:Aryl Hydrocarbon Receptor Nuclear Translocator; D051792:Basic Helix-Loop-Helix Proteins; D008562:Membrane Glycoproteins; D010121:Oxytocin; D012097:Repressor Proteins; C490989:ARNT2 protein, human; C491094:SIM1 protein, human; C498154:CD38 protein, human
keywords: ARNT2; Autism; CD38; Oxytocin; SIM1