The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis

Mol Psychiatry. 2015 May;20(5):640-6. doi: 10.1038/mp.2014.77. Epub 2014 Aug 5.


The oxytocin receptor gene (OXTR) has been studied as a risk factor for autism spectrum disorder (ASD) owing to converging evidence from multiple levels of analysis that oxytocin (OXT) has an important role in the regulation of affiliative behavior and social bonding in both nonhuman mammals and humans. Inconsistency in the effect sizes of the OXTR variants included in association studies render it unclear whether OXTR is truly associated with ASD, and, if so, which OXTR single-nucleotide polymorphisms (SNPs) are associated. Thus, a meta-analytic review of extant studies is needed to determine whether OXTR shows association with ASD, and to elucidate which specific SNPs have a significant effect on ASD. The current meta-analysis of 16 OXTR SNPs included 3941 individuals with ASD from 11 independent samples, although analyses of each individual SNP included a subset of this total. We found significant associations between ASD and the SNPs rs7632287, rs237887, rs2268491 and rs2254298. OXTR was also significantly associated with ASD in a gene-based test. The current meta-analysis is the largest and most comprehensive investigation of the association of OXTR with ASD and the findings suggest directions for future studies of the etiology of ASD.

Publication types

  • Meta-Analysis
  • Review

MeSH terms

  • Animals
  • Autism Spectrum Disorder / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • Polymorphism, Single Nucleotide / genetics*
  • Receptors, Oxytocin / genetics*


  • OXTR protein, human
  • Receptors, Oxytocin