The present study investigated 3 genomic regions within OXTR, including an a priori defined region within intron 1 that has been previously associated with autism symptoms, externalizing behaviours, psychological distress, and social perception112, as well as the promoter region upstream of the transcription start site next to exon 1, and a distal enhancer element located within intron 3, identified using ChIP-sequencing experiment data as potentially regulatory regions of the gene. Here, OXTR is linked to autism.