St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, 10065, USA.
Computer Sciences Department, The Jackson Laboratory, Farmington, CT, 06032, USA.
F1000Res. 2024 Apr 4;11:1294. doi: 10.12688/f1000research.126721.2. eCollection 2022.
Changes in blood transcript abundance levels have been associated with pathogenesis in a wide range of diseases. While next generation sequencing technology can measure transcript abundance on a genome-wide scale, downstream clinical applications often require small sets of genes to be selected for inclusion in targeted panels. Here we set out to gather information from the literature and transcriptome datasets that would help researchers determine whether to include the gene CEACAM6 in such panels.
We employed a workflow to systematically retrieve, structure, and aggregate information derived from both the literature and public transcriptome datasets. It consisted of profiling the CEACAM6 literature to identify major diseases associated with this candidate gene and establish its relevance as a biomarker. Accessing blood transcriptome datasets identified additional instances where CEACAM6 transcript levels differ in cases vs controls. Finally, the information retrieved throughout this process was captured in a structured format and aggregated in interactive circle packing plots.
Although it is not routinely used clinically, the relevance of CEACAM6 as a biomarker has already been well established in the cancer field, where it has invariably been found to be associated with poor prognosis. Focusing on the blood transcriptome literature, we found studies reporting elevated levels of CEACAM6 abundance across a wide range of pathologies, especially diseases where inflammation plays a dominant role, such as asthma, psoriasis, or Parkinson's disease. The screening of public blood transcriptome datasets completed this picture, showing higher abundance levels in patients with infectious diseases caused by viral and bacterial pathogens.
Targeted assays measuring CEACAM6 transcript abundance in blood may be of potential utility for the management of patients with diseases presenting with systemic inflammation and for the management of patients with cancer, where the assay could potentially be run both on blood and tumor tissues.
血液转录丰度水平的变化与广泛的疾病的发病机制有关。虽然下一代测序技术可以在全基因组范围内测量转录丰度,但下游的临床应用通常需要选择一小部分基因包含在靶向面板中。在这里,我们旨在从文献和转录组数据集中收集信息,以帮助研究人员确定是否将基因 CEACAM6 包含在这些面板中。
我们采用了一种工作流程,系统地检索、构建和汇总来自文献和公共转录组数据集的信息。它包括对 CEACAM6 文献进行分析,以确定与该候选基因相关的主要疾病,并确定其作为生物标志物的相关性。访问血液转录组数据集确定了其他情况下 CEACAM6 转录水平在病例与对照之间的差异。最后,在整个过程中检索到的信息以结构化格式捕获,并以交互式圆形包装图聚合。
尽管它在临床上不常使用,但 CEACAM6 作为生物标志物的相关性已经在癌症领域得到了很好的证实,在那里它总是与预后不良相关。关注血液转录组文献,我们发现有研究报告称,在广泛的病理中,CEACAM6 的丰度水平升高,特别是在炎症起主导作用的疾病中,如哮喘、银屑病或帕金森病。公共血液转录组数据集的筛选完成了这一图景,显示出由病毒和细菌病原体引起的传染病患者的丰度水平更高。
测量血液中 CEACAM6 转录丰度的靶向测定可能对具有全身炎症表现的患者的管理以及癌症患者的管理具有潜在的应用价值,在这些患者中,该测定可以在血液和肿瘤组织上进行。