Genetic associates of a visual endophenotype of autism and schizophrenia

Abstract

Event Abstract Back to Event Genetic associates of a visual endophenotype of autism and schizophrenia Patrick T. Goodbourn1, 2*, Jenny M. Bosten1, Gary Bargary1, 3, Ruth E. Hogg1, 4, Adam J. Lawrance-Owen1 and J. D. Mollon1 1 University of Cambridge, Department of Psychology, United Kingdom 2 University of Sydney, School of Psychology, Australia 3 City University London, Division of Optometry and Visual Science, United Kingdom 4 Queen's University Belfast, Centre for Vision and Vascular Science, United Kingdom Background: There is evidence that sensitivity to visual stimuli of low spatial frequency and high temporal frequency (for example, ‘frequency-doubled’ gratings) is abnormal both in schizophrenia and in autism spectrum disorder. Basic visual functions are ideal endophenotypes for the molecular genetic study of psychological disorders, because the underlying neural mechanisms are relatively well characterized. Previously, however, investigators have generally preferred cognitive and neurophysiological endophenotypes, for which neural substrates can be much more complex. Methods: We measured contrast sensitivity for detection of ‘frequency-doubled’ gratings in a cohort of 1060 healthy young adults, and tested for associations with 642,758 single-nucleotide polymorphism (SNP) markers distributed throughout the whole genome. Results: The strongest association with visual sensitivity was found for a SNP marker on chromosome 1q21.1 (P = 7.9 × 10−9). Each additional copy of the minor allele was associated with an increase in sensitivity equivalent to more than half a standard deviation. Discussion: The region on chromosome 1q21.1 is a known susceptibility locus for schizophrenia and for ASD, which mirrors the common association of the visual endophenotype with both disorders. Genetic variants at the associated marker may influence the expression of NMDA receptors and neuroligins, which have been implicated in the aetiologies of schizophrenia and ASD. Our findings suggest that common genetic elements may play a role in the perceptual and psychological abnormalities observed in two different disorders. Acknowledgements This work was supported by the Gatsby Charitable Foundation [GAT2903]. PTG was supported by a scholarship from the Cambridge Commonwealth and Overseas Trusts, and by an Overseas Research Studentship from the U.K. Government. Keywords: Schizophrenia, Autism Spectrum Disorders, Visual Sensitivity, Frequency Doubling, Endophenotypes, Genome-Wide Association Study Conference: ACNS-2013 Australasian Cognitive Neuroscience Society Conference, Clayton, Melbourne, Australia, 28 Nov - 1 Dec, 2013. Presentation Type: Poster Topic: Sensation and Perception Citation: Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and Mollon JD (2013). Genetic associates of a visual endophenotype of autism and schizophrenia. Conference Abstract: ACNS-2013 Australasian Cognitive Neuroscience Society Conference. doi: 10.3389/conf.fnhum.2013.212.00026 Copyright: The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers. They are made available through the Frontiers publishing platform as a service to conference organizers and presenters. The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated. Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed. For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions. Received: 15 Oct 2013; Published Online: 25 Nov 2013. * Correspondence: Dr. Patrick T Goodbourn, University of Cambridge, Department of Psychology, Cambridge, United Kingdom, patgoodbourn@gmail.com Login Required This action requires you to be registered with Frontiers and logged in. To register or login click here. Abstract Info Abstract The Authors in Frontiers Patrick T Goodbourn Jenny M Bosten Gary Bargary Ruth E Hogg Adam J Lawrance-Owen J. D Mollon Google Patrick T Goodbourn Jenny M Bosten Gary Bargary Ruth E Hogg Adam J Lawrance-Owen J. D Mollon Google Scholar Patrick T Goodbourn Jenny M Bosten Gary Bargary Ruth E Hogg Adam J Lawrance-Owen J. D Mollon PubMed Patrick T Goodbourn Jenny M Bosten Gary Bargary Ruth E Hogg Adam J Lawrance-Owen J. D Mollon Related Article in Frontiers Google Scholar PubMed Abstract Close Back to top Javascript is disabled. Please enable Javascript in your browser settings in order to see all the content on this page.