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The oxytocin receptor gene predicts brain activity during an emotion recognition task in autism

Accepted version
Peer-reviewed

Type

Article

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Authors

Uzefovsky, Florina 
Shamay-Tsoory, Simone 
Holt, Rosemary 

Abstract

Background. Autism is a highly varied and heritable neurodevelopmental condition, and common variants explain approximately 50% of the genetic variance of autism . One of the genes implicated in autism is the Oxytocin Receptor (OXTR). The current study combined genetic and brain imaging (fMRI) data to examine the moderating effect of genotype on the association between diagnosis and brain activity in response to a test of cognitive empathy. Methods. Participants were adolescents (mean age=14.7±1.7) who were genotyped for Single Nucleotide Polymorphisms (SNPs) within the OXTR, and underwent functional brain imaging while completing the adolescent version of the 'Reading the Mind in the Eyes' Test (Eyes Test) . Results. Two (rs2254298, rs53576) of the 5 OXTR SNPs examined were significantly associated with brain activity during the Eyes Test, and three of the SNPs (rs2254298, rs53576, rs2268491) interacted with diagnostic status to predict brain activity. All of the effects localized to the right supramarginal gyrus (rSMG) and an overlap analysis revealed a large overlap of the effects. An exploratory analysis showed that activity within an anatomically defined rSMG and genotype can predict diagnostic status with reasonable accuracy. Conclusions. This is one of the first studies to investigate OXTR and brain function in autism. The findings suggest a neurogenetic mechanism by which OXTR-dependant activity within the rSMG is related to the aetiology of autism.

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Keywords

Journal Title

Molecular Autism

Conference Name

Journal ISSN

2040-2392

Volume Title

10

Publisher

BioMed Central
Sponsorship
Medical Research Council (G0701919)
Department of Health (via National Institute for Health Research (NIHR)) (NF-SI-0515-10097)
Israel Science Foundation (449/14) Dr. Florina Uzefovsky British Friends of the Hebrew University Dr. Florina Uzefovsky Joseph Levy charitable foundation Dr. Florina Uzefovsky UK Medical Research Council (G0701919) Dr. Michael Spencer Pinsent Darwin Trust Dr. Richard Bethlehem William Binks Autism Neuroscience Fellowship Dr. Amber Ruigrok Medical Research Council Dr. Simon Baron-Cohen Wellcome Trust Dr. Simon Baron-Cohen Autism Research Trust Dr. Simon Baron-Cohen National Institute for Health Research (NIHR) Collaboration for Leadership in Applied Health Research and Care East of England at Cambridgeshire and Peterborough NHS Foundation Trust Not applicable