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NR3C1 基因表达是创伤后应激障碍风险和诊断的潜在替代生物标志物。

The NR3C1 gene expression is a potential surrogate biomarker for risk and diagnosis of posttraumatic stress disorder.

机构信息

Laboratorio de Genética de la Licenciatura en Ciencia Forense, Facultad de Medicina, Universidad Nacional Autónoma de México, México.

Laboratorio Genómica del Cáncer, Instituto Nacional de Medicina Genómica, Mexico.

出版信息

Psychiatry Res. 2020 Feb;284:112797. doi: 10.1016/j.psychres.2020.112797. Epub 2020 Jan 16.

DOI:10.1016/j.psychres.2020.112797
PMID:31982660
Abstract

Posttraumatic Stress Disorder (PTSD) is an anxiety disorder which occurs after a traumatic event. The NR3C1 gene codes for the Glucocorticoid Receptor, which participate in the Hypothalamic-Pituitary-Adrenal (HPA) axis and is altered in PTSD patients. To evaluate whether the NR3C1 gene expression in peripheral blood could be useful as a diagnosis biomarker, a total of 32 PTSD patients and 59 healthy controls were analyzed with quantitative RT-PCR. Also, to assess if NR3C1 dysregulation is associated with hypocortisolism in PTSD patients, serum cortisol was quantified by ELISA in a subset of these samples. Significant NR3C1 over-expression was found in PTSD patients compared with controls, and this was higher in patients with acute PTSD. The Area Under the Curve (AUC) of NR3C1 gene expression was 0.797. The sensibility and specificity of NRC1 gene expression to diagnose PTSD was 62.5% and 89.8%, respectively. We also found that an up-regulation of NR3C1 increased the risk for being diagnosed with PTSD (OR= 12.8, 95%, CI 4-41.4). Finally, the NR3C1 gene expression was inversely related with serum cortisol in PTSD patients. The present results suggest that NR3C1 gene expression could be a promising biomarker for PTSD diagnosis and estimate the risk for disease development.

摘要

创伤后应激障碍(PTSD)是一种焦虑障碍,发生在创伤事件之后。NR3C1 基因编码糖皮质激素受体,参与下丘脑-垂体-肾上腺(HPA)轴,在 PTSD 患者中发生改变。为了评估外周血中 NR3C1 基因表达是否可用作诊断生物标志物,我们用定量 RT-PCR 分析了总共 32 名 PTSD 患者和 59 名健康对照者。此外,为了评估 NR3C1 失调是否与 PTSD 患者的皮质醇减少症有关,我们在这些样本的一部分中用 ELISA 定量测定了血清皮质醇。与对照组相比,PTSD 患者的 NR3C1 过度表达明显,急性 PTSD 患者的表达更高。NR3C1 基因表达的曲线下面积(AUC)为 0.797。NR3C1 基因表达诊断 PTSD 的敏感性和特异性分别为 62.5%和 89.8%。我们还发现,NR3C1 的上调增加了 PTSD 诊断的风险(OR=12.8,95%CI 4-41.4)。最后,NR3C1 基因表达与 PTSD 患者的血清皮质醇呈负相关。这些结果表明,NR3C1 基因表达可能是 PTSD 诊断的有前途的生物标志物,并估计疾病发展的风险。

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