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[基因名称1]、[基因名称2]和[基因名称3]基因变异与精神分裂症谱系障碍的关联研究

Association Study of , , and Genetic Variants with Schizophrenia Spectrum Disorders.

作者信息

Bednarova Aneta, Habalova Viera, Krivosova Michaela, Marcatili Matteo, Tkac Ivan

机构信息

2nd Department of Psychiatry, Faculty of Medicine, Pavol Jozef Safarik University, Louis Pasteur University Hospital, 041 90 Kosice, Slovakia.

Department of Medical Biology, Faculty of Medicine, Pavol Jozef Safarik University, 040 11 Kosice, Slovakia.

出版信息

J Pers Med. 2023 Apr 12;13(4):658. doi: 10.3390/jpm13040658.

Abstract

Schizophrenia spectrum disorders (patients with a diagnosis of schizophrenia, schizotypal, and delusional disorders: F20-F29 according to International Classification of Diseases 10th revision (ICD-10)) are considered highly heritable heterogeneous psychiatric conditions. Their pathophysiology is multifactorial with involved dysregulated serotonergic neurotransmission and synaptic plasticity. The present study aimed to evaluate the association of (5-HTTLPR), (rs9939609), and (rs6265, rs962369) polymorphisms with schizophrenia spectrum disorders in Slovak patients. We analyzed the genotypes of 150 patients with schizophrenia, schizotypal, and delusional disorders and compared them with genotypes from 178 healthy volunteers. We have found a marginally protective effect of LS + SS genotypes of 5-HTTLPR variant of the serotonin transporter gene against the development of schizophrenia spectrum disorders, but the result failed to remain significant after Bonferroni correction. Similarly, we have not proven any significant association between other selected genetic variants and schizophrenia and related disorders. Studies including a higher number of subjects are warranted to reliably confirm the presence or absence of the studied associations.

摘要

精神分裂症谱系障碍(根据国际疾病分类第10版(ICD - 10)诊断为精神分裂症、分裂型障碍和妄想性障碍的患者:F20 - F29)被认为是具有高度遗传性的异质性精神疾病。其病理生理学是多因素的,涉及血清素能神经传递失调和突触可塑性。本研究旨在评估斯洛伐克患者中血清素转运体基因(5 - HTTLPR)、(rs9939609)以及(rs6265,rs962369)多态性与精神分裂症谱系障碍之间的关联。我们分析了150例精神分裂症、分裂型障碍和妄想性障碍患者的基因型,并将其与178名健康志愿者的基因型进行比较。我们发现血清素转运体基因5 - HTTLPR变体的LS + SS基因型对精神分裂症谱系障碍的发展有微弱的保护作用,但在Bonferroni校正后该结果不再显著。同样,我们尚未证实其他所选基因变体与精神分裂症及相关障碍之间存在任何显著关联。有必要开展纳入更多受试者的研究,以可靠地确认所研究关联的存在与否。

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本文引用的文献

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