Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population

J Hum Genet. 2010 Mar;55(3):137-41. doi: 10.1038/jhg.2009.140. Epub 2010 Jan 22.


The oxytocin receptor (OXTR) gene, which is located on chromosome 3p25.3, has been implicated as a candidate gene for susceptibility of autism spectrum disorder (ASD). Positive associations between OXTR and ASD have been reported in earlier studies. However, the results were inconsistent and demand further studies. In this study, we investigated the associations between OXTR and ASD in a Japanese population by analyzing 11 single-nucleotide polymorphisms (SNPs) using both family-based association test (FBAT) and population-based case-control test. No significant signal was detected in the FBAT test. However, significant differences were observed in allelic frequencies of four SNPs, including rs2254298 between patients and controls. The risk allele of rs2254298 was 'A', which was consistent with the previous study in Chinese, and not with the observations in Caucasian. The difference in the risk allele of this SNP in previous studies might be attributable to an ethnic difference in the linkage disequilibrium structure between the Asians and Caucasians. In addition, haplotype analysis exhibits a significant association between a five-SNP haplotype and ASD, including rs22542898. In conclusion, our study might support that OXTR has a significant role in conferring the risk of ASD in the Japanese population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Asian Continental Ancestry Group / genetics*
  • Autistic Disorder / genetics*
  • Family
  • Female
  • Gene Frequency / genetics
  • Genetic Markers
  • Genetic Predisposition to Disease*
  • Haplotypes / genetics
  • Humans
  • Japan
  • Linkage Disequilibrium / genetics
  • Male
  • Polymorphism, Single Nucleotide / genetics*
  • Receptors, Oxytocin / genetics*


  • Genetic Markers
  • Receptors, Oxytocin