Tuberculosis (TB), caused by Mycobacterium tuberculosis (Mtb), remains the leading cause of death due to a single bacterial agent, with approximately 10.6 million people developing active disease and 1.6 million deaths reported globally in 2021. After exposure, some, but not all individuals, will become infected with the bacillus. However, only a small fraction (approximately 5 to 15%) of these individuals will progress to clinical disease, while in the remainder, infection is seemingly contained, and no signs of clinical disease are shown. Numerous observations have advocated for the role of host genetics in the display of these inter-individual variabilities in infection and disease phenotypes. In this review, we will provide an overview of the approaches, findings and limitations of the very first studies investigating TB genetic susceptibility to more recent studies. Lastly, we highlight several approaches, namely, linkage analyses and association studies, proposed to discover genetic markers associated with TB susceptibility. This review also explored the concept of polygenic risk scores (PRS) for prediction of tuberculosis susceptibility. The identification of host genetic factors influencing TB susceptibility/resistance is paramount to not only better understand the physiopathology of the disease but also explore more effective approaches for the development of both optimal preventive measures (i.e. better vaccines) and treatments of TB disease.

结核病 (TB)，由结核分枝杆菌( Mtb)引起)，仍然是单一细菌病原体导致死亡的主要原因，2021 年全球约有 1060 万人患上活动性疾病，据报告有 160 万人死亡。接触后，一些人（但不是所有人）会感染这种杆菌。然而，这些个体中只有一小部分（大约 5 到 15%）会发展为临床疾病，而在其余个体中，感染似乎已得到控制，并且没有显示出临床疾病的迹象。许多观察结果表明宿主遗传学在显示感染和疾病表型的这些个体间变异中的作用。在这篇综述中，我们将概述最初调查结核病遗传易感性的研究的方法、发现和局限性，以及最近的研究。最后，我们重点介绍了几种方法，即连锁分析和关联研究，建议发现与 TB 易感性相关的遗传标记。本综述还探讨了用于预测结核病易感性的多基因风险评分 (PRS) 的概念。确定影响 TB 易感性/耐药性的宿主遗传因素对于更好地了解该疾病的病理生理学以及探索更有效的方法来开发最佳预防措施（即更好的疫苗）和治疗 TB 疾病至关重要。