AI Article Synopsis

  • The oxytocin receptor (OXTR) gene is linked to autism spectrum disorder (ASD), affecting social interaction and communication.
  • Researchers resequenced the OXTR gene in 105 ASD patients using advanced DNA sequencing techniques, identifying 28 novel rare variants.
  • The findings suggest that these rare variants are more common in individuals with ASD than in healthy subjects, indicating a potential role of OXTR in the disorder.

Article Abstract

The oxytocin receptor (OXTR) gene has been implicated as a risk gene for autism spectrum disorder (ASD)-a neurodevelopmental disorder with essential features of impairments in social communication and reciprocal interaction. The genetic associations between common variations in OXTR and ASD have been reported in multiple ethnic populations. However, little is known about the distribution of rare variations within OXTR in ASD patients. In this study, we resequenced the full length of OXTR in 105 ASD individuals using an approach that combined the power of next-generation sequencing technology, long-range PCR and DNA pooling. We demonstrated that rare variants with minor allele frequency as low as 0.05% could be reliably detected by our method. We identified 28 novel variants including potential functional variants in the intron region and one rare missense variant (R150S). We subsequently performed Sanger sequencing and validated five novel variants located in previously suggested candidate regions in ASD individuals. Further sequencing of 312 healthy subjects showed that the burden of rare variants is significantly higher in ASDs compared with healthy individuals. Our results support that the rare variation in OXTR gene might be involved in ASD.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785550PMC
http://dx.doi.org/10.1038/hgv.2015.24DOI Listing

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