Heritability estimates for cognitive factors and brain white matter integrity as markers of schizophrenia

Authors

  • Hilary Bertisch,

    Corresponding author
    1. Department of Psychiatry, New York University School of Medicine, New York, New York
    2. Department of Psychology, Rusk Institute of Rehabilitation Medicine, New York University Medical Center, New York, New York
    • Department of Psychiatry, New York University School of Medicine, 650 First Avenue, New York, NY 10016.
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  • Dawei Li,

    1. Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut
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  • Matthew J. Hoptman,

    1. Department of Psychiatry, New York University School of Medicine, New York, New York
    2. Division of Clinical Research, Nathan Kline Institute for Psychiatric Research, Orangeburg, New York
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  • Lynn E. DeLisi

    1. Department of Psychiatry, New York University School of Medicine, New York, New York
    2. Department of Psychiatry, Harvard Medical School, Boston VA Brockton Health Services System, Brockton, Massachusetts
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  • How to Cite this Article: Bertisch H, Li D, Hoptman MJ, DeLisi LE. 2010. Heritability Estimates for Cognitive Factors and Brain White Matter Integrity as Markers of Schizophrenia. Am J Med Genet Part B 153B: 885–894.

Abstract

Recent genetics research focusing on schizophrenia has led to candidate cognitive and neuroimaging variables as intermediate phenotypes or “endophenotype” markers for the illness. Among other stringent criteria, to be an endophenotype, a marker must demonstrate heritability. In an effort to explore the validity of a selection of cognitive and neuroimaging endophenotypes, the present study was designed to determine estimates of their heritability. One hundred fourteen subjects, including 27 with schizophrenia and 39 unaffected relatives from 23 multiplex schizophrenia families, participated in a comprehensive neuropsychological test battery and structural brain imaging with diffusion tensor imaging (DTI). Variables were selected if they previously have been demonstrated to show differences between people with schizophrenia and normal controls. Significant evidence of heritability was confirmed for overall cognitive function (“g”), as well as expressive and receptive language, verbal and visual memory, processing speed and cognitive inhibition. In addition, significant heritability estimates were determined for specific regions in the frontal, central, parietal, and occipital areas. These results suggest that the variables chosen may be useful endophenotypes for genetic and early detection studies, although further work with larger cohorts should be conducted to show that deficits in these functions and structures also segregate with schizophrenia within families and thus fully satisfy the definition of an endophenotype. In addition, other cognitive and neuroimaging variables that were not studied here may be candidates for schizophrenia endophenotypes. © 2010 Wiley-Liss, Inc.

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