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Author Notes:

To whom correspondence should be addressed. E-mail: d.skuse@ucl.ac.uk.

Author contributions: D.H.S. and L.J.Y. designed research

D.H.S., I.L., K.P., T.L., and L.J.Y. performed research

D.H.S. and L.J.Y. contributed new reagents/analytic tools

D.H.S., A.L., J.F.C., I.L., K.N.C., E.B.B., and L.J.Y. analyzed data

D.H.S., A.L., J.F.C., E.B.B., and L.J.Y. wrote the paper.

We thank Angie Wade, Will Mandy, John Morris, and Kate Lawrence, as well as the many families and children who participated.

The authors declare no conflict of interest.

Subjects:

Research Funding:

The main body of work was primarily supported by National Institutes of Health Grants MH056897, MH064692, and 1P50MH100023 (to L.J.Y.) and Nancy Lurie Marks Family Foundation and National Alliance for Autism Research grants (to D.H.S.).

Additional support was from National Center for Research Resources Grant P51RR165 to Yerkes National Primate Research Center, currently supported by the Office of Research Infrastructure Programs/OD P51OD11132.

Keywords:

  • Science & Technology
  • Multidisciplinary Sciences
  • Science & Technology - Other Topics
  • VASOPRESSIN RECEPTOR
  • SEQUENCE VARIATION
  • AUTISM
  • FACE
  • BEHAVIOR
  • CHILDREN
  • BRAIN
  • POPULATION
  • ABILITY
  • HERITABILITY

Common polymorphism in the oxytocin receptor gene (OXTR) is associated with human social recognition skills

Tools:

Journal Title:

Proceedings of the National Academy of Sciences

Volume:

Volume 111, Number 5

Publisher:

, Pages 1987-1992

Type of Work:

Article | Final Publisher PDF

Abstract:

The neuropeptides oxytocin and vasopressin are evolutionarily conserved regulators of social perception and behavior. Evidence is building that they are critically involved in the development of social recognition skills within rodent species, primates, and humans. We investigated whether common polymorphisms in the genes encoding the oxytocin and vasopressin 1a receptors influence social memory for faces. Our sample comprised 198 families, from the United Kingdom and Finland, in whom a single child had been diagnosed with high-functioning autism. Previous research has shown that impaired social perception, characteristic of autism, extends to the first-degree relatives of autistic individuals, implying heritable risk. Assessments of face recognition memory, discrimination of facial emotions, and direction of gaze detection were standardized for age (7-60 y) and sex. A common SNP in the oxytocin receptor (rs237887) was strongly associated with recognition memory in combined probands, parents, and siblings after correction for multiple comparisons. Homozygotes for the ancestral A allele had impairments in the range -0.6 to -1.15 SD scores, irrespective of their diagnostic status. Our findings imply that a critical role for the oxytocin system in social recognition has been conserved across perceptual boundaries through evolution, from olfaction in rodents to visual memory in humans.

Copyright information:

© 2017 National Academy of Sciences

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