Tuberculosis is an ancient human disease, estimated to have originated and evolved over thousands of years alongside modern human populations. Despite considerable advances in disease control, tuberculosis remains one of the world's deadliest communicable diseases with 10 million incident cases and 1·8 million deaths in 2015 alone based on the annual WHO report, due to inadequate health service resources in less-developed regions of the world, and exacerbated by the HIV/AIDS pandemic and emergence of multidrug-resistant strains of Mycobacterium tuberculosis. Recent findings from studies of tuberculosis infection and of patients with Mendelian predisposition to severe tuberculosis have started to reveal human loci influencing tuberculosis outcomes. In this Review, we assess the current understanding of the contribution of host genetics to disease susceptibility and to drug treatment. Despite remarkable progress in technology, only a few associated genetic variants have so far been identified, strongly indicating the need for larger global studies that investigate both common and under-represented rare variants to develop new approaches to combat the disease. Pharmacogenomic discoveries are also likely to lead to more efficient drug design and development, and ultimately safer and more effective therapies for tuberculosis.

中文翻译：

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人类对活动性和潜伏性结核病易感性的遗传学：目前的知识和未来的前景。

结核病是一种古老的人类疾病，据估计与现代人类一起起源和进化了数千年。尽管在疾病控制方面取得了长足的进步，但根据世卫组织的年度报告，仅在 2015 年，结核病仍是世界上最致命的传染病之一，原因是欠发达地区的卫生服务资源不足。艾滋病毒/艾滋病大流行和耐多药结核分枝杆菌菌株的出现加剧了这种情况。最近对结核感染和具有严重结核病孟德尔倾向的患者的研究结果开始揭示影响结核病结果的人类基因座。在这篇评论中，我们评估了目前对宿主遗传学对疾病易感性和药物治疗的贡献的理解。尽管技术取得了显着进步，但迄今为止只发现了一些相关的遗传变异，这强烈表明需要进行更大规模的全球研究，调查常见和代表性不足的罕见变异，以开发对抗这种疾病的新方法。药物基因组学的发现也可能导致更有效的药物设计和开发，最终更安全、更有效地治疗结核病。强烈表明需要进行更大规模的全球研究，调查常见和代表性不足的罕见变异，以开发对抗这种疾病的新方法。药物基因组学的发现也可能导致更有效的药物设计和开发，最终更安全、更有效地治疗结核病。强烈表明需要进行更大规模的全球研究，调查常见和代表性不足的罕见变异，以开发对抗这种疾病的新方法。药物基因组学的发现也可能导致更有效的药物设计和开发，最终更安全、更有效地治疗结核病。