1 Division of Pulmonary, Critical Care and Sleep Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio.
2 Center for Genes Environment and Health, Department of Biomedical Research, National Jewish Health, Denver, Colorado.
Ann Am Thorac Soc. 2017 Dec;14(Supplement_6):S445-S451. doi: 10.1513/AnnalsATS.201707-567OT.
Sarcoidosis is a complex, polygenic disease of unknown cause with diverse clinical phenotypes, ranging from self-limited, asymptomatic disease to life-altering symptoms and early disease-related mortality. It is unlikely that a single common environmental exposure (e.g., infection, antigen) entirely explains the disease, and numerous genetic mutations are associated with the disease. As such, it is reasonable to assume, as with other phenotypically diverse diseases, that distinct genetic mechanisms and related biological biomarkers will serve to further define sarcoidosis subphenotypes, mechanisms, and possibly etiology, thus guiding personalized care. The fields of "omics" and systems biology research are widely applied to understand polygenic and phenotypically diverse diseases, such as sarcoidosis. "Omics" refers to technologies that allow comprehensive profiling of sets of molecules in an organism. Systems biology applies advanced computational approaches to make sense of the enormous data sets that are typically generated from "omics" platforms. The primary objectives of this article are to review the available "omics" tools, assess the current status of "omics" and systems biology research in the field of sarcoidosis, and consider how this technology could be applied to advance our understanding of the mechanistic underpinnings of disease and to develop novel treatments.
结节病是一种病因不明的复杂、多基因疾病,具有多种临床表型,从自限性、无症状疾病到改变生活的症状和早期与疾病相关的死亡率不等。单一常见的环境暴露(例如感染、抗原)不太可能完全解释这种疾病,并且许多基因突变与这种疾病有关。因此,可以合理地假设,与其他表型多样化的疾病一样,不同的遗传机制和相关的生物标志物将有助于进一步定义结节病亚型、机制,并可能阐明病因,从而指导个性化治疗。“组学”和系统生物学研究领域广泛应用于理解结节病等多基因和表型多样化的疾病。“组学”是指允许对生物体中的分子集合进行全面分析的技术。系统生物学应用先进的计算方法来理解通常从“组学”平台生成的庞大数据集。本文的主要目的是回顾现有的“组学”工具,评估“组学”和系统生物学研究在结节病领域的现状,并考虑如何应用这项技术来深入了解疾病的机制基础,并开发新的治疗方法。