Carvalho Carolina M, Coimbra Bruno M, Ota Vanessa K, Mello Marcelo F, Belangero Sintia I
Department of Psychiatry, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
Department of Morphology and Genetics, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):671-682. doi: 10.1002/ajmg.b.32564. Epub 2017 Jul 7.
Posttraumatic stress disorder (PTSD) is a common psychiatric disorder. The etiology of PTSD is multifactorial, depending on many environmental and genetic risk factors, and the exposure to life or physical integrity-threatening events. Several studies have shown significant correlations of many neurobiological findings with PTSD. Hypothalamic-pituitary-adrenal (HPA) axis dysfunction is strongly correlated with this disorder. One hypothesis is that HPA axis dysfunction may precede the traumatic event, suggesting that genes expressed in the HPA axis may be involved in the development of PTSD. This article reviews molecular genetic studies related to PTSD collected through a literature search performed in PubMed, MEDLINE, ScienceDirect, and Scientific Electronic Library Online (SciELO). The results of these studies suggest that several polymorphisms in the HPA axis genes, including FKBP5, NR3C1, CRHR1, and CRHR2, may be risk factors for PTSD development or may be associated with the severity of PTSD symptoms.
创伤后应激障碍(PTSD)是一种常见的精神障碍。PTSD的病因是多因素的,取决于许多环境和遗传风险因素,以及暴露于威胁生命或身体完整性的事件。多项研究表明,许多神经生物学发现与PTSD存在显著相关性。下丘脑-垂体-肾上腺(HPA)轴功能障碍与这种疾病密切相关。一种假设是,HPA轴功能障碍可能先于创伤事件发生,这表明HPA轴中表达的基因可能参与了PTSD的发展。本文回顾了通过在PubMed、MEDLINE、ScienceDirect和科学电子图书馆在线(SciELO)进行文献检索收集的与PTSD相关的分子遗传学研究。这些研究结果表明,HPA轴基因中的几种多态性,包括FKBP5、NR3C1、CRHR1和CRHR2,可能是PTSD发展的风险因素,或者可能与PTSD症状的严重程度相关。