Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.
Division of Infectious Diseases and HIV Medicine, Department of Medicine, Case Western Reserve University, Cleveland, OH, USA.
Genes Immun. 2023 Jun;24(3):117-123. doi: 10.1038/s41435-023-00204-z. Epub 2023 Apr 22.
Resistance to M. tuberculosis, often referred to as "RSTR" in the literature, is being increasingly studied because of its potential relevance as a clinical outcome in vaccine studies. This review starts by addressing the importance of epidemiological characterization of this phenotype, and ongoing challenges in that characterization. Then, this review summarizes the extant genetic and genomic studies of this phenotype, including heritability studies, candidate gene studies, and genome-wide association studies, as well as whole transcriptome studies. Findings from recent studies that used longitudinal characterization of the RSTR phenotype are compared to those using a cross-sectional definition, and the challenges of using tuberculin skin test and interferon-gamma release assay are discussed. Finally, future directions are proposed. Since this is a rapidly evolving area of public health significance, this review will help frame future research questions and study designs.
结核分枝杆菌耐药性，文献中常称为“RSTR”，由于其作为疫苗研究临床结果的潜在相关性，正越来越受到关注。本综述首先讨论了对该表型进行流行病学特征描述的重要性，以及在该特征描述方面正在面临的挑战。然后，本综述总结了该表型的现有遗传和基因组研究，包括遗传力研究、候选基因研究和全基因组关联研究，以及全转录组研究。将使用 RSTR 表型纵向特征描述的最近研究的结果与使用横断面定义的研究结果进行比较，并讨论了结核菌素皮肤试验和干扰素-γ释放试验的应用挑战。最后提出了未来的方向。由于这是一个具有重要公共卫生意义的快速发展领域，因此本综述将有助于构建未来的研究问题和研究设计。
