Department of Biomedical Informatics, Columbia University, New York, NY, USA.
Department of Physiology & Cellular Biophysics, Columbia University, New York, NY, USA.
Nat Med. 2020 Oct;26(10):1609-1615. doi: 10.1038/s41591-020-1021-2. Epub 2020 Aug 3.
Understanding the pathophysiology of SARS-CoV-2 infection is critical for therapeutic and public health strategies. Viral-host interactions can guide discovery of disease regulators, and protein structure function analysis points to several immune pathways, including complement and coagulation, as targets of coronaviruses. To determine whether conditions associated with dysregulated complement or coagulation systems impact disease, we performed a retrospective observational study and found that history of macular degeneration (a proxy for complement-activation disorders) and history of coagulation disorders (thrombocytopenia, thrombosis and hemorrhage) are risk factors for SARS-CoV-2-associated morbidity and mortality-effects that are independent of age, sex or history of smoking. Transcriptional profiling of nasopharyngeal swabs demonstrated that in addition to type-I interferon and interleukin-6-dependent inflammatory responses, infection results in robust engagement of the complement and coagulation pathways. Finally, in a candidate-driven genetic association study of severe SARS-CoV-2 disease, we identified putative complement and coagulation-associated loci including missense, eQTL and sQTL variants of critical complement and coagulation regulators. In addition to providing evidence that complement function modulates SARS-CoV-2 infection outcome, the data point to putative transcriptional genetic markers of susceptibility. The results highlight the value of using a multimodal analytical approach to reveal determinants and predictors of immunity, susceptibility and clinical outcome associated with infection.
了解 SARS-CoV-2 感染的病理生理学对于治疗和公共卫生策略至关重要。病毒-宿主相互作用可以指导疾病调节剂的发现,而蛋白质结构功能分析指出了几种免疫途径,包括补体和凝血途径,作为冠状病毒的靶点。为了确定与补体或凝血系统失调相关的疾病是否会影响疾病,我们进行了一项回顾性观察性研究,发现黄斑变性(补体激活障碍的替代指标)和凝血障碍史(血小板减少症、血栓形成和出血)是与 SARS-CoV-2 相关发病率和死亡率的危险因素-这些效应独立于年龄、性别或吸烟史。对鼻咽拭子的转录谱分析表明,除了 I 型干扰素和白细胞介素 6 依赖性炎症反应外,感染还导致补体和凝血途径的强烈参与。最后,在严重 SARS-CoV-2 疾病的候选驱动基因关联研究中,我们确定了潜在的补体和凝血相关位点,包括关键补体和凝血调节剂的错义、eQTL 和 sQTL 变体。除了提供补体功能调节 SARS-CoV-2 感染结果的证据外,这些数据还指向了易感性的潜在转录遗传标志物。研究结果强调了使用多模态分析方法来揭示与感染相关的免疫、易感性和临床结果的决定因素和预测因素的价值。