Tzu Chi Medical Journal
Volume 21, Issue 3 , Pages 197-203, September 2009

Copy Number Variations and Psychiatric Disorders

  • Yu-Lin Chao

      Affiliations

    • Department of Psychiatry, Buddhist Tzu Chi General Hospital, tiualien, Taiwan
    • Qraduate Institute of Clinical Medicine, Tzu Chi University, tiualien, Taiwan
    • ,
  • Wei-Hsien Chien

      Affiliations

    • Institute of Medical Sciences, Tzu Chi University, tiualien, Taiwan
    • ,
  • Hsiao-Mei Liao

      Affiliations

    • Institute of Biotechnology, national Tsing fiua University, Hsinchu, Taiwan
    • ,
  • Jye-Siung Fang

      Affiliations

    • Graduate Institute of Molecular Biology and Human Genetics, Tzu Chi University, Hualien, Taiwan
    • ,
  • Chia-Hsiang Chen

      Affiliations

    • Qraduate Institute of Clinical Medicine, Tzu Chi University, tiualien, Taiwan
    • Institute of Medical Sciences, Tzu Chi University, tiualien, Taiwan
    • Graduate Institute of Molecular Biology and Human Genetics, Tzu Chi University, Hualien, Taiwan
    • Division of Mental Health and Addiction Medicine, Institute of Population Health Sciences, National Health Research Institutes, Miaoli, Taiwan
    • Corresponding Author InformationCorresponding author. Division of Mental Health and Addiction Medicine, Institute of Population Health Sciences, national Health Research Institutes, 35, Keyan Road, Zhunan, Miaoli, Taiwan

Received 25 August 2009; received in revised form 31 August 2009; accepted 4 September 2009.

Article Outline

Abstract 

Copy number variations (CNVs) are gains and losses of DMA segments in the human genome, and form genetic variations. Recent studies have shown that CNVs contribute to the phenotypic variation in humans and are associated with complex diseases, including psychiatric disorders. Emerging evidence indicates that CNVs play a role in the genetic etiology of mental retardation, autism, schizophrenia, and bipolar disorders. This review summarizes the latest findings of recent research on the role of CNVs in the pathogenesis of these four psychiatric disorders. The positive association of CNVs with psychiatric disorders has several implications: (1) at least in some patients, the genetic defects in each patient are individualized with high penetrance, which is different from the prevailing common variant hypothesis of complex psychiatric disorders; (2) the identification of pathogenic CNVs in psychiatric disorders would bring new insight into the pathogenesis of mental disorders; (3) array-based comparative genomic hybridization technology has the potential to become a useful laboratory tool in clinical practice to help in diagnosing psychiatric disorders.

Keywords:  Copy number variations , Genetics , Psychiatric disorders

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PII: S1016-3190(09)60039-2

doi:10.1016/S1016-3190(09)60039-2

Tzu Chi Medical Journal
Volume 21, Issue 3 , Pages 197-203, September 2009

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