Immune response is one of the functions that have been more strongly targeted by natural selection during human evolution. The evolutionary genetic dissection of the immune system has greatly helped to distinguish genes and functions that are essential, redundant or advantageous for human survival. It is also becoming increasingly clear that admixture between early Eurasians with now-extinct hominins such as Neanderthals or Denisovans, or admixture between modern human populations, can be beneficial for human adaptation to pathogen pressures. In this review, we discuss how the integration of population genetics with functional genomics in diverse human populations can inform about the changes in immune functions related to major lifestyle transitions (e.g., from hunting and gathering to farming), the action of natural selection to the evolution of the immune system, and the history of past epidemics. We also highlight the need of expanding the characterization of the immune system to a larger array of human populations—particularly neglected human groups historically exposed to different pathogen pressures—to fully capture the relative contribution of genetic, epigenetic, and environmental factors to immune response variation in humans.

免疫反应是人类进化过程中自然选择更加强烈地针对的功能之一。免疫系统的进化遗传解剖极大地有助于区分对人类生存至关重要，多余或有利的基因和功能。越来越清楚的是，早期的欧亚人与现已灭绝的人种如尼安德特人或丹尼索瓦人之间的混合物，或现代人群之间的混合物，对人类适应病原体压力可能是有益的。在这篇综述中，我们讨论了如何将人口遗传学与功能基因组学整合到不同的人群中，可以如何告知与主要生活方式转变（例如从狩猎，采集到耕种）有关的免疫功能的变化，自然选择对免疫系统进化的作用以及过去流行病的历史。我们还强调了需要将免疫系统的特征扩展到更多的人群中，尤其是历史上暴露于不同病原体压力的被忽视人群，以充分捕获遗传，表观遗传和环境因素对免疫应答变异的​​相对贡献。在人类中。