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rs1986112变异与精神分裂症患者RAB8B基因表达增加有关。

The rs1986112 Variant is Associated with Increased RAB8B Gene Expression in Schizophrenic Patients.

作者信息

Johari Amir H, Nejad Farhad R, Mansoori Nader, Vafaei Fatemeh, Salehi Shima, Alehabib Elham, Alinaghi Somayeh, Chapi Marjan, Jamali Faezeh, Darvish Hossein, Ghaedi Hamid

出版信息

Clin Lab. 2019 Apr 1;65(4). doi: 10.7754/Clin.Lab.2018.180832.

Abstract

BACKGROUND

Schizophrenia (SCZ) is a serious mental disorder that interferes with a person's cognitive processes and leads to social disability. A wide range of factors may play important roles in increased risk of SCZ development. Genetic contributors are among the most influential actors involved in different molecular mechanisms leading to the development of the nervous system, thus they play pivotal roles in psychotic disorders and SCZ de-velopment. RAB8B is characterized for its key roles in several cellular and molecular mechanisms which are linked with different psychotic disorders, such as SCZ.

METHODS

In this study, we assessed the expression level of RAB8B gene in blood samples of schizophrenic patients and normal healthy controls by means of quantitative real time PCR. We also investigated the correlation between RAB8B-rs1986112 genotypes and RAB8B expression levels through SNP genotyping by means of the PCR-RFLP method.

RESULTS

Our results indicated a significant difference of RAB8B mRNA ratio between SCZ patients and healthy controls. Moreover, we showed significant upregulation of RAB8B in patients with rs1986112 GG and AG genotype compared to AA genotype.

CONCLUSIONS

Our findings suggest a role for RAB8B and its regulatory variation, rs1986112 in SCZ development.

摘要

背景

精神分裂症(SCZ)是一种严重的精神障碍,会干扰人的认知过程并导致社会功能残疾。多种因素可能在SCZ发病风险增加中起重要作用。遗传因素是参与导致神经系统发育的不同分子机制的最具影响力的因素之一,因此它们在精神障碍和SCZ的发展中起关键作用。RAB8B因其在与不同精神障碍(如SCZ)相关的几种细胞和分子机制中的关键作用而具有特征性。

方法

在本研究中,我们通过定量实时PCR评估了精神分裂症患者和正常健康对照者血液样本中RAB8B基因的表达水平。我们还通过PCR-RFLP方法进行SNP基因分型,研究了RAB8B-rs1986112基因型与RAB8B表达水平之间的相关性。

结果

我们的结果表明,SCZ患者与健康对照者之间RAB8B mRNA比例存在显著差异。此外,我们发现与AA基因型相比,rs1986112 GG和AG基因型患者的RAB8B显著上调。

结论

我们的研究结果表明RAB8B及其调控变异rs1986112在SCZ发展中起作用。

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