Institut Pasteur, Université Paris Cité, CNRS UMR2000, Human Evolutionary Genetics Unit, F-75015, Paris, France.
Collège de France, Chair of Human Genomics and Evolution, F-75005, Paris, France.
Eur J Hum Genet. 2022 Aug;30(8):915-921. doi: 10.1038/s41431-022-01141-7. Epub 2022 Jun 28.
Devastating pandemics, such as that due to COVID-19, can provide strong testimony to our knowledge of the genetic and evolutionary determinants of infectious disease susceptibility and severity. One of the most remarkable aspects of such outbreaks is the stunning interindividual variability observed in the course of infection. In recent decades, enormous progress has been made in the field of the human genetics of infectious diseases, and an increasing number of human genetic factors have been reported to explain, to a great extent, the observed variability for a large number of infectious agents. However, our understanding of the cellular, molecular, and immunological mechanisms underlying such disparities between individuals and ethnic groups, remains very limited. Here, we discuss recent findings relating to human genetic predisposition to infectious disease, from an immunological or population genetic perspective, and show how these and other innovative approaches have been applied to deciphering the genetic basis of human susceptibility to COVID-19 and the severity of this disease. From an evolutionary perspective, we show how past demographic and selection events characterizing the history of our species, including admixture with archaic humans, such as Neanderthals, facilitated modern human adaptation to the threats imposed by ancient pathogens. In the context of emerging infectious diseases, these past episodes of genetic adaptation may contribute to some of the observed population differences in the outcome of SARS-CoV-2 infection and the severity of COVID-19 illness.
毁灭性的大流行病,如由 COVID-19 引起的大流行病,可以为我们了解传染病易感性和严重程度的遗传和进化决定因素提供有力的证据。此类疫情爆发的最显著特点之一是在感染过程中观察到的惊人个体间变异性。近几十年来,传染病的人类遗传学领域取得了巨大进展,越来越多的人类遗传因素被报道可以在很大程度上解释大量传染病病原体的观察到的变异性。然而,我们对个体和族裔群体之间这种差异背后的细胞、分子和免疫学机制的理解仍然非常有限。在这里,我们从免疫学或群体遗传学的角度讨论了与人类对传染病的遗传易感性相关的最新发现,并展示了这些发现以及其他创新方法如何被应用于破译人类对 COVID-19 的易感性和这种疾病严重程度的遗传基础。从进化的角度来看,我们展示了过去的人口和选择事件如何描述我们物种的历史,包括与古人类(如尼安德特人)的混合,这促进了现代人类对古代病原体带来的威胁的适应。在新发传染病的背景下,这些过去的遗传适应事件可能导致 SARS-CoV-2 感染结果和 COVID-19 疾病严重程度的一些观察到的人群差异。