Abstract
Oxytocin is a pituitary neuropeptide that affects social behaviour. Single nucleotide polymorphisms (SNPs) in the oxytocin receptor gene (OXTR) have been shown to explain some variability in social abilities in control populations. Whether these variants similarly contribute to the severity of social deficits experienced by children with neurodevelopmental disorders is unclear. Social abilities were assessed in a group of children with autism spectrum disorder (ASD, n = 341) or attention deficit hyperactivity disorder (ADHD, n = 276) using two established social measures. Scores were compared by OXTR genotype (rs53576, rs237887, rs13316193, rs2254298). Unexpectedly, the two most frequently studied OXTR SNPs in the general population (rs53576 and rs2254298) were associated with an increased severity of social deficits in ASD (p < 0.0001 and p = 0.0005), yet fewer social deficits in ADHD (p = 0.007 and p < 0.0001). We conclude that these genetic modifier alleles are not inherently risk-conferring with respect to their impact on social abilities; molecular investigations are greatly needed.
Highlights
The past decade has yielded major advances in our understanding of the genetics of human social behaviour
Preliminary investigations suggest that single nucleotide polymorphisms (SNPs) in oxytocin receptor gene (OXTR) may act as modifier alleles with respect to the severity of social deficits experienced by individuals with autism spectrum disorder (ASD) (For a review of the literature, see Supplementary Table S1)
Our findings indicate that common polymorphisms in neuropeptide receptor genes likely represent a specific and not a general risk modifier, with effects that vary by diagnosis in the context of different biological, behavioural, or environmental conditions
Summary
We initially examined OXTR SNPs with prior evidence of genotype effects on social abilities within each diagnostic group (in ASD: rs53576, rs2254298, and rs237887; in ADHD: rs53576 and rs13316193), restricting the sample to those of Caucasian ancestry only, and adjusting for other possible confounding factors (see Methods). For OXTR rs2254298, the hypothesized high-risk group (AA/AG) had higher SCQ scores in the ASD cohort (OR 1.2, 95% CI: 1.1–1.4, Z = 3.5, p = 0.0005), suggesting greater social deficits (Table 2). OXTR rs237887 genotype was associated with differences in social abilities, with the AA-allele group having greater social deficits than the GG group on the both the SCQ (OR: 1.2, 95% CI: 1.0–1.4) and the RMET (OR: 1.2, 95% CI: 1.0–1.5),
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