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DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls

Authors

  • E.K. Green,

    Corresponding author
    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
    • Department of Psychological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.
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  • D. Grozeva,

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
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  • R. Sims,

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
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  • R. Raybould,

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
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  • L. Forty,

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
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  • K. Gordon-Smith,

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
    2. Department of Psychiatry, University of Birmingham, National Centre for Mental Health, Birmingham, United Kingdom
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  • E. Russell,

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
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  • D. St. Clair,

    1. Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, United Kingdom
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  • A.H. Young,

    1. School of Neurology, Neurobiology and Psychiatry, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom
    2. UBC Institute of Mental Health, Detwiller Pavilion Vancouver, British Columbia, Canada
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  • I.N. Ferrier,

    1. School of Neurology, Neurobiology and Psychiatry, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom
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  • G. Kirov,

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
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  • I. Jones,

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
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  • L Jones,

    1. Department of Psychiatry, University of Birmingham, National Centre for Mental Health, Birmingham, United Kingdom
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  • M.J. Owen,

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
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  • M.C. O'Donovan,

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
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  • N. Craddock

    1. MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
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  • How to Cite this Article: Green EK, Grozeva D, Sims R, Raybould R, Forty L, Gordon-Smith K, Russell E, St. Clair D, Young AH, Ferrier IN, Kirov G, Jones I, Jones L, Owen MJ, O'Donovan MC, Craddock N. 2011. DISC1 Exon 11 Rare Variants Found More Commonly in Schizoaffective Spectrum Cases Than Controls. Am J Med Genet Part B 156:490–492.

Abstract

We previously performed a linkage study using families identified through probands meeting criteria for DSM-IV schizoaffective disorder, bipolar type (SABP) and observed a genome-wide significant signal (LOD = 3.54) at chromosome 1q42 close to DISC1. An initial sequencing study of DISC1 using 14 unrelated DSM-IV SABP samples from the linkage study identified 2 non-synonymous coding SNPs in exon 11 in 2 separate individuals. Here we provide evidence of additional rare coding SNPs within exon 11. In sequencing exon 11 in 506 cases and 1,211 controls for variants that occurred only once, 4 additional rare variants were found in cases (P-value = 0.008, Fisher's exact trend test). © 2011 Wiley-Liss, Inc.

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