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DGKZ 的表达分析和基因分型:一项针对精神分裂症的 GWAS 风险基因研究。

Expression analysis and genotyping of DGKZ: a GWAS-derived risk gene for schizophrenia.

机构信息

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Student Research Committee, Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

出版信息

Mol Biol Rep. 2019 Aug;46(4):4105-4111. doi: 10.1007/s11033-019-04860-1. Epub 2019 May 13.

Abstract

Schizophrenia (SCZ) is a disabling and severe mental illness characterized by abnormal social behavior and disrupted emotions. Similar to other neuropsychological disorders, both genetics and environmental factors interplay so as to develop SCZ. It is acknowledged that genes such as DGKZ are involved in lipid signaling pathways that are the basis of neural activities, memory, and learning and are considered as candidate loci for SCZ. The aim of the present study was to evaluate the expression level and genotypes of DGKZ in patients with SCZ and controls. We used q-PCR to measure the relative expression of DGKZ in blood. To determine DGKZ-rs7951870 genotypes, tetra-ARMS PCR was used. Our results showed a significant difference in DGKZ mRNA ratio between SCZ patients and healthy controls (P = 2 × 10). Also, we showed that rs7951870-TT genotype was strongly associated with increased DGKZ expression level (P = 0.038). In conclusion, our findings revealed dysregulation of DGKZ in SCZ patients and a significant correction between the gene expression and DGKZ variant rs7951870.

摘要

精神分裂症(SCZ)是一种致残性和严重的精神疾病,其特征是异常的社会行为和情绪紊乱。与其他神经心理障碍类似,遗传和环境因素相互作用,从而导致 SCZ 的发生。人们已经认识到,DGKZ 等基因参与脂质信号通路,该通路是神经活动、记忆和学习的基础,被认为是 SCZ 的候选基因座。本研究旨在评估 DGKZ 在精神分裂症患者和对照组中的表达水平和基因型。我们使用 q-PCR 测量血液中 DGKZ 的相对表达。为了确定 DGKZ-rs7951870 基因型,我们使用了四聚体 ARMS-PCR。我们的结果表明,精神分裂症患者和健康对照组之间的 DGKZ mRNA 比值存在显著差异(P=2×10)。此外,我们还表明 rs7951870-TT 基因型与 DGKZ 表达水平的升高密切相关(P=0.038)。总之,我们的研究结果表明,DGKZ 在精神分裂症患者中存在失调,并且基因表达与 DGKZ 变异 rs7951870 之间存在显著的相关性。

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