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X chromosome aneuploidies and schizophrenia: association analysis and phenotypic characterization.

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Title: X chromosome aneuploidies and schizophrenia: association analysis and phenotypic characterization.
Authors: Kushima, Itaru (AUTHOR), Aleksic, Branko (AUTHOR), Kimura, Hiroki (AUTHOR), Nakatochi, Masahiro (AUTHOR), Lo, Tzuyao (AUTHOR), Ikeda, Masashi (AUTHOR), Arai, Makoto (AUTHOR), Hashimoto, Ryota (AUTHOR), Numata, Shusuke (AUTHOR), Okamura, Yasunobu (AUTHOR), Obara, Taku (AUTHOR), Inada, Toshiya (AUTHOR), Ozaki, Norio (AUTHOR)
Source: Psychiatry & Clinical Neurosciences. Dec2022, Vol. 76 Issue 12, p667-673. 7p. 2 Charts.
Subjects: X chromosome, Comparative genomic hybridization, Schizophrenia, Phenotypes, Mood stabilizers, Neuroleptic malignant syndrome
Abstract: Aim: The aims of the present study were: (i) to examine the association between schizophrenia (SCZ) and 47, XXY or 47, XXX in a large case–control sample; and (ii) to characterize the clinical features of patients with SCZ with these X chromosome aneuploidies. Methods: To identify 47, XXY and 47, XXX, array comparative genomic hybridization (aCGH) was performed in 3188 patients with SCZ and 3586 controls. We examined the association between 47, XXY and 47, XXX and SCZ in males and females separately using exact conditional tests to control for platform effects. Clinical data were retrospectively examined for patients with SCZ with X chromosome aneuploidies. Results: Of the analyzed samples, 3117 patients (97.8%) and 3519 controls (98.1%) passed our quality control. X chromosome aneuploidies were exclusively identified in patients: 47, XXY in seven patients (0.56%), 47, XXX in six patients (0.42%). Statistical analysis revealed a significant association between SCZ and 47, XXY (P = 0.028) and 47, XXX (P = 0.011). Phenotypic data were available from 12 patients. Treatment‐resistance to antipsychotics and manic symptoms were observed in six patients each (four with 47, XXY and two with 47, XXX for both), respectively. Statistical analysis revealed that treatment‐resistance to antipsychotics, mood stabilizer use, and manic symptoms were significantly more common in patients with 47, XXY than in male patients without pathogenic copy number variations. Conclusion: These findings indicate that both 47, XXY and 47, XXX are significantly associated with risk for SCZ. Patients with SCZ with 47, XXY may be characterized by treatment‐resistance and manic symptoms. [ABSTRACT FROM AUTHOR]
Copyright of Psychiatry & Clinical Neurosciences is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: X chromosome aneuploidies and schizophrenia: association analysis and phenotypic characterization.
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  Data: <searchLink fieldCode="AR" term="%22Kushima%2C+Itaru%22">Kushima, Itaru</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Aleksic%2C+Branko%22">Aleksic, Branko</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kimura%2C+Hiroki%22">Kimura, Hiroki</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nakatochi%2C+Masahiro%22">Nakatochi, Masahiro</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lo%2C+Tzuyao%22">Lo, Tzuyao</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ikeda%2C+Masashi%22">Ikeda, Masashi</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Arai%2C+Makoto%22">Arai, Makoto</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hashimoto%2C+Ryota%22">Hashimoto, Ryota</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Numata%2C+Shusuke%22">Numata, Shusuke</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Okamura%2C+Yasunobu%22">Okamura, Yasunobu</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Obara%2C+Taku%22">Obara, Taku</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Inada%2C+Toshiya%22">Inada, Toshiya</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ozaki%2C+Norio%22">Ozaki, Norio</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Psychiatry+%26+Clinical+Neurosciences%22">Psychiatry & Clinical Neurosciences</searchLink>. Dec2022, Vol. 76 Issue 12, p667-673. 7p. 2 Charts.
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  Data: <searchLink fieldCode="DE" term="%22X+chromosome%22">X chromosome</searchLink><br /><searchLink fieldCode="DE" term="%22Comparative+genomic+hybridization%22">Comparative genomic hybridization</searchLink><br /><searchLink fieldCode="DE" term="%22Schizophrenia%22">Schizophrenia</searchLink><br /><searchLink fieldCode="DE" term="%22Phenotypes%22">Phenotypes</searchLink><br /><searchLink fieldCode="DE" term="%22Mood+stabilizers%22">Mood stabilizers</searchLink><br /><searchLink fieldCode="DE" term="%22Neuroleptic+malignant+syndrome%22">Neuroleptic malignant syndrome</searchLink>
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  Data: Aim: The aims of the present study were: (i) to examine the association between schizophrenia (SCZ) and 47, XXY or 47, XXX in a large case–control sample; and (ii) to characterize the clinical features of patients with SCZ with these X chromosome aneuploidies. Methods: To identify 47, XXY and 47, XXX, array comparative genomic hybridization (aCGH) was performed in 3188 patients with SCZ and 3586 controls. We examined the association between 47, XXY and 47, XXX and SCZ in males and females separately using exact conditional tests to control for platform effects. Clinical data were retrospectively examined for patients with SCZ with X chromosome aneuploidies. Results: Of the analyzed samples, 3117 patients (97.8%) and 3519 controls (98.1%) passed our quality control. X chromosome aneuploidies were exclusively identified in patients: 47, XXY in seven patients (0.56%), 47, XXX in six patients (0.42%). Statistical analysis revealed a significant association between SCZ and 47, XXY (P = 0.028) and 47, XXX (P = 0.011). Phenotypic data were available from 12 patients. Treatment‐resistance to antipsychotics and manic symptoms were observed in six patients each (four with 47, XXY and two with 47, XXX for both), respectively. Statistical analysis revealed that treatment‐resistance to antipsychotics, mood stabilizer use, and manic symptoms were significantly more common in patients with 47, XXY than in male patients without pathogenic copy number variations. Conclusion: These findings indicate that both 47, XXY and 47, XXX are significantly associated with risk for SCZ. Patients with SCZ with 47, XXY may be characterized by treatment‐resistance and manic symptoms. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
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  Data: <i>Copyright of Psychiatry & Clinical Neurosciences is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1111/pcn.13474
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        Text: English
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      – SubjectFull: X chromosome
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