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Neuropsychological Endophenotypes in Schizophrenia and Bipolar I Disorder: Yields from the Finnish Family and Twin Studies

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Book cover The Handbook of Neuropsychiatric Biomarkers, Endophenotypes and Genes

Abstract

This chapter summarizes findings related to the neuropsychology of schizophrenia and bipolar disorders and the use of neuropsychological functions as endophenotypes in genetic analyses in Finnish family and twin studies. The endophenotypes are the intermediate factors between the phenotype and genotype, and they are assumed to be contributed to by fewer genes than the clinical phenotypes of the complex psychiatric disorders. There is a long tradition of research both on schizophrenia and bipolar disorder in Finland, and large population based family and twin samples for clinical, neuropsychological, and genetic studies have been collected. In these samples, we have used the endophenotype strategy, first evaluating whether the neuropsychological test variables fulfill the criteria for valid endophenotypes and then using them in genomewide linkage and candidate gene association analyses. In the genomewide linkage analysis, several variables related to learning and memory were shown to enhance the linkage as compared with using the categorical clinical phenotype. Moreover, working memory, and several variables from the learning and memory process were found to be heritable and to show significant associations with DISC1, reelin, and AKT1 in schizophrenia, and with DISC1 in bipolar disorder, in which DAOA also associated with visuospatial ability. Although the associations are modest, our results support the validity of the endophenotype approach in investigating the genetic etiology of severe mental illnesses. Future studies should further evaluate endophenotypes derived from neuroscience to obtain optimal variables that help in tracking multiple genes of small effect predisposing to developing the complex psychiatric disorders.

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Authors and Affiliations

  1. National Public Health Institute Department of Mental Health and Alcohol Research, Helsinki, Finland

    Annamari Tuulio-Henriksson (Senior Researcher)

  2. Department of Mental Health and Alcohol Research, National Public Health Institute, Helsinki, Finland

    Jonna Perälä (Researcher)

  3. Departments of Psychiatry and Psychology, University of Minnesota, Minneapolis, MN, USA

    Irving I. Gottesman (Professor)

  4. National Public Health Institute Department of Mental Health and Alcohol Research, Helsinki, Finland

    Jaana Suvisaari

Authors
  1. Annamari Tuulio-Henriksson
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  2. Jonna Perälä
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  3. Irving I. Gottesman
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  4. Jaana Suvisaari
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Editors and Affiliations

  1. Israel Institute of Technology, Haifa

    Michael S. Ritsner M.D., Ph.D. (Associate Professor of Psychiatry, the Rappaport Faculty of Medicine Technion) (Associate Professor of Psychiatry, the Rappaport Faculty of Medicine Technion)

  2. Sha'ar Menashe Mental Health Center, Hadera, Israel

    Michael S. Ritsner M.D., Ph.D. (Associate Professor of Psychiatry, the Rappaport Faculty of Medicine Technion) (Associate Professor of Psychiatry, the Rappaport Faculty of Medicine Technion)

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Tuulio-Henriksson, A., Perälä, J., Gottesman, I.I., Suvisaari, J. (2009). Neuropsychological Endophenotypes in Schizophrenia and Bipolar I Disorder: Yields from the Finnish Family and Twin Studies. In: Ritsner, M.S. (eds) The Handbook of Neuropsychiatric Biomarkers, Endophenotypes and Genes. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-9464-4_8

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