Department of Psychiatry, Yale University School of Medicine, West Haven, CT, USA.
Veterans Administration Connecticut Healthcare System, West Haven, CT, USA.
Psychol Med. 2021 Oct;51(13):2178-2188. doi: 10.1017/S0033291721000210. Epub 2021 Feb 15.
Posttraumatic stress disorder (PTSD) is a complex mental disorder afflicting approximately 7% of the population. The diverse number of traumatic events and the wide array of symptom combinations leading to PTSD diagnosis contribute substantial heterogeneity to studies of the disorder. Genomic and complimentary-omic investigations have rapidly increased our understanding of the heritable risk for PTSD. In this review, we emphasize the contributions of genome-wide association, epigenome-wide association, transcriptomic, and neuroimaging studies to our understanding of PTSD etiology. We also discuss the shared risk between PTSD and other complex traits derived from studies of causal inference, co-expression, and brain morphological similarities. The investigations completed so far converge on stark contrasts in PTSD risk between sexes, partially attributed to sex-specific prevalence of traumatic experiences with high conditional risk of PTSD. To further understand PTSD biology, future studies should focus on detecting risk for PTSD while accounting for substantial cohort-level heterogeneity (e.g. civilian v. combat-exposed PTSD cases or PTSD risk among cases exposed to specific traumas), expanding ancestral diversity among study cohorts, and remaining cognizant of how these data influence social stigma associated with certain traumatic events among underrepresented minorities and/or high-risk populations.
创伤后应激障碍(PTSD)是一种复杂的精神障碍,大约影响着 7%的人口。导致 PTSD 诊断的创伤事件种类繁多,症状组合也多种多样,这使得对该疾病的研究存在很大的异质性。基因组和互补组学的研究极大地增进了我们对 PTSD 遗传风险的理解。在这篇综述中,我们强调了全基因组关联、全基因组关联、转录组和神经影像学研究对我们理解 PTSD 病因的贡献。我们还讨论了 PTSD 与其他复杂特征之间的共同风险,这些特征是从因果推断、共表达和大脑形态相似性研究中得出的。迄今为止完成的研究集中在 PTSD 风险在性别之间的鲜明对比上,部分原因是 PTSD 具有特定性别差异的创伤经历,这些经历具有 PTSD 的高条件风险。为了进一步了解 PTSD 的生物学,未来的研究应该集中在检测 PTSD 风险的同时,考虑到大量队列水平的异质性(例如,平民 PTSD 病例与战斗暴露 PTSD 病例,或暴露于特定创伤的 PTSD 风险),扩大研究队列的祖先多样性,并始终意识到这些数据如何影响代表性不足的少数群体和/或高危人群中某些创伤事件相关的社会耻辱感。