Genetic epidemiology of resistance to M. tuberculosis Infection: importance of study design and recent findings.

Genetic epidemiology of resistance to M. tuberculosis Infection: importance of study design and recent findings.
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DOI:
10.1038/s41435-023-00204-z
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发表时间:
2023-06
期刊:
影响因子:
5
通讯作者:
--
中科院分区:
医学3区
文献类型:
--
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抵抗M。结核病在文献中通常被称为“RSTR”,由于其作为疫苗研究中的临床结果的潜在相关性,正被越来越多地研究。这篇综述首先讨论了这种表型的流行病学特征的重要性,以及在这种特征方面正在面临的挑战。本文综述了该表型的遗传学和基因组学研究,包括遗传力研究、候选基因研究、全基因组关联研究和全转录组研究。从最近的研究中,使用纵向表征的RSTR表型的结果进行了比较,那些使用横截面的定义,并使用结核菌素皮试和干扰素-γ释放试验的挑战进行了讨论。最后,提出了未来的发展方向。由于这是一个快速发展的公共卫生意义的领域,本次审查将有助于框架未来的研究问题和研究设计。
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.
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