Copy number analyses in monozygotic twins discordant for mental disorders

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  • Imamura Akira
    Department of Psychiatry, Nagasaki University Graduate School of Biomedical Sciences. 1-7-1, Sakamoto, Nagasaki
  • Ono Shinji
    Department of Psychiatry, Nagasaki University Graduate School of Biomedical Sciences. 1-7-1, Sakamoto, Nagasaki
  • Tsujita Takahiro
    Hironaka Hospita
  • Hashida Aoi
    Jo-Ya Hospital
  • Kurotaki Naohiro
    Department of Psychiatry, Nagasaki University Graduate School of Biomedical Sciences. 1-7-1, Sakamoto, Nagasaki
  • Ozawa Hiroki
    Department of Psychiatry, Nagasaki University Graduate School of Biomedical Sciences. 1-7-1, Sakamoto, Nagasaki
  • Okazaki Yuji
    Tokyo Institute of Psychiatry

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Other Title
  • 一卵性双生児精神疾患不一致例におけるコピー数解析
  • イチランセイ ソウセイジ セイシン シッカン フイッチレイ ニ オケル コピースウ カイセキ

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Abstract

Several researchers have discovered monozygotic twins that are discordant for several phenotypes caused by genomic differences. Recently, copy number variations (CNVs) have gained attention as common structural variations in the human genome that strongly affect genomic diversity. CNVs can play a role in the development of several diseases including neuropsychiatric disorders, particularly autism spectrum disorder and schizophrenia. Recent reports have indicated that monozygotic twins can show different CNV profiles. As a trial to identify susceptible loci for schizophrenia, we searched for CNVs in three pairs of monozygotic twins discordant for schizophrenia using the Affymetrix Genome-Wide Human SNP Array 6. 0. A paired analysis of copy number state detected several deleted or amplificated regions in the twins’ genomes. However, the differences between twin pairs could not be confirmed in any of the tested regions using quantitative PCR. Although we did not find any differences in copy numbers between the twin pairs in this study, CNV analysis of discordant monozygotic twin is still likely to be a powerful tool for identifying the loci responsible for schizophrenia.

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