Department of Pharmacological Sciences, Mount Sinai Center for Bioinformatics, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Lyme Disease Research Center, Division of Rheumatology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Front Immunol. 2021 Mar 8;12:636289. doi: 10.3389/fimmu.2021.636289. eCollection 2021.
Although widely prevalent, Lyme disease is still under-diagnosed and misunderstood. Here we followed 73 acute Lyme disease patients and uninfected controls over a period of a year. At each visit, RNA-sequencing was applied to profile patients' peripheral blood mononuclear cells in addition to extensive clinical phenotyping. Based on the projection of the RNA-seq data into lower dimensions, we observe that the cases are separated from controls, and almost all cases never return to cluster with the controls over time. Enrichment analysis of the differentially expressed genes between clusters identifies up-regulation of immune response genes. This observation is also supported by deconvolution analysis to identify the changes in cell type composition due to Lyme disease infection. Importantly, we developed several machine learning classifiers that attempt to perform various Lyme disease classifications. We show that Lyme patients can be distinguished from the controls as well as from COVID-19 patients, but classification was not successful in distinguishing those patients with early Lyme disease cases that would advance to develop post-treatment persistent symptoms.
尽管莱姆病普遍存在,但仍未得到充分诊断和误解。在这里,我们对 73 名急性莱姆病患者和未感染对照者进行了为期一年的随访。在每次就诊时,我们除了进行广泛的临床表型分析外,还应用 RNA 测序对患者的外周血单核细胞进行了分析。根据 RNA-seq 数据在低维空间的投影,我们观察到病例与对照组分离,而且几乎所有病例随着时间的推移从未再次与对照组聚类。对聚类之间差异表达基因的富集分析表明,免疫反应基因上调。通过去卷积分析来识别莱姆病感染导致的细胞类型组成变化,也支持了这一观察结果。重要的是,我们开发了几种机器学习分类器,尝试进行各种莱姆病分类。我们表明,莱姆病患者可以与对照组以及 COVID-19 患者区分开来,但分类器未能成功区分那些早期莱姆病患者,这些患者可能会发展为治疗后持续存在的症状。