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Sci Rep. 2017 Sep 14;7(1):11618. doi: 10.1038/s41598-017-10821-0.

Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders.

Author information

1
Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
2
Department of Biostatistics Design and Analysis, The Hospital for Sick Children, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
3
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
4
The McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.
5
Department of Psychiatry, The Hospital for Sick Children, Toronto, Ontario, Canada.
6
Hotchkiss Brain Institute, Departments of Psychiatry & Medical Genetics, University of Calgary, Calgary, Alberta, Canada.
7
The Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
8
The Children's Health Research Institute and Western University, London, Ontario, Canada.
9
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Chedoke Hospital, Hamilton, Ontario, Canada.
10
Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
11
Autism Research Centre, Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.
12
Program in Neuroscience and Mental Health, The Hospital for Sick Children, Department of Medical Biophysics, University of Toronto, Toronto, Canada.
13
Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada. eanagnostou@hollandbloorview.ca.
14
Autism Research Centre, Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada. eanagnostou@hollandbloorview.ca.

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.

PMID:
28912494
PMCID:
PMC5599599
DOI:
10.1038/s41598-017-10821-0
[Indexed for MEDLINE]
Free PMC Article

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