Frontline of intermediate phenotype study in schizophrenia

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  • Hashimoto Ryota
    Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development, Osaka University, Kanazawa University and Hamamatsu University School of Medicine Department of Psychiatry, Osaka University Graduate School of Medicine
  • ohi Kazutaka
    Department of Psychiatry, Osaka University Graduate School of Medicine
  • Yasuda Yuka
    Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development, Osaka University, Kanazawa University and Hamamatsu University School of Medicine Department of Psychiatry, Osaka University Graduate School of Medicine
  • Fukumoto Motoyuki
    Department of Psychiatry, Osaka University Graduate School of Medicine
  • Yamamori Hidenaga
    Department of Psychiatry, Osaka University Graduate School of Medicine Department of Molecular Neuropsychiatry, Osaka University Graduate School of Medicine
  • Umeda Tomomi
    Department of Molecular Neuropsychiatry, Osaka University Graduate School of Medicine
  • Okada Takenari
    Department of Psychiatry, Osaka University Graduate School of Medicine
  • Takeda Masatoshi
    Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development, Osaka University, Kanazawa University and Hamamatsu University School of Medicine Department of Psychiatry, Osaka University Graduate School of Medicine

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Other Title
  • 統合失調症の中間表現型研究の最前線
  • トウゴウ シッチョウショウ ノ チュウカン ヒョウゲンガタ ケンキュウ ノ サイゼンセン

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Abstract

Genes are major contributors to schizophrenia. Studies aiming to identify susceptibility genes for schizophrenia are faced with the confounds of subjective clinical criteria, commonly occurring phenocopies, significant between-subject variability of candidate traits, and the likelihood of allelic and locus heterogeneity. The intermediate phenotype concept represents a strategy for identifying risk genes for schizophrenia and for characterizing the neural systems affected by risk gene variants to elucidate quantitative, mechanistic aspects of brain function implicated in schizophrenia. Intermediate phenotypes are defined by being heritable, being able to measure quantitatively ; being related to the disorder and its symptoms in the general population ; being stable over time ; showing increased expression in unaffected relatives of probands ; and cosegregation with the disorder in families. Intermediate phenotypes in schizophrenia are neurocognition, neuroimaging, neurophysiology, etc. Progress in the identification of meaningful intermediate phenotypes in schizophrenia has been made by the advance of newer methods in cognitive neuroscience and neuroimaging, and the use of combined multimodal techniques. In this review, we present concept, recent work, and future perspective of intermediate phenotype.

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