Genetic associates of a visual endophenotype of autism and schizophrenia
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1
University of Cambridge, Department of Psychology, United Kingdom
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2
University of Sydney, School of Psychology, Australia
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3
City University London, Division of Optometry and Visual Science, United Kingdom
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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
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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