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

• Type of Material: Article
• Authors: David H. Skuse, University College London; Adriana Lori, Emory University; Joseph Cubells, Emory University; Irene Lee, University College London; Karen Conneely, Emory University; Kaija Puura, Fimlab Laboratories; Tehro Lehtimaki, University of Tampere; Elisabeth Binder, Emory University; Larry Young, Emory University
• Language: English
• Date: 2014-02-04
• Publisher: National Academy of Sciences
• Publication Version: Final Published Version
• Copyright Statement: © 2017 National Academy of Sciences
• Final Published Version (URL): http://dx.doi.org/10.1073/pnas.1302985111
• Title of Journal or Parent Work: Proceedings of the National Academy of Sciences
• ISSN: 0027-8424
• Volume: 111
• Issue: 5
• Start Page: 1987
• End Page: 1992
• Grant/Funding Information: 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: AUTISM; Multidisciplinary Sciences; Science & Technology - Other Topics; HERITABILITY; BRAIN; SEQUENCE VARIATION; ABILITY; FACE; POPULATION; BEHAVIOR; Science & Technology; CHILDREN; VASOPRESSIN RECEPTOR
• Research Categories: Biology, Neuroscience; Psychology, Behavioral

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.