Deschamps Matthieu, Quintana-Murci Lluís
Institut Pasteur, Unité de Génétique Évolutive humaine, Département Génomes et Génétique, 25, rue du Docteur Roux, 75015 Paris, France ; Centre national de la recherche scientifique, URA3012, 75015 Paris, France ; Université Pierre et Marie Curie, cellule Pasteur UPMC, 25, rue du Docteur Roux, 75015 Paris, France.
Med Sci (Paris). 2016 Dec;32(12):1079-1086. doi: 10.1051/medsci/20163212011. Epub 2017 Jan 3.
Throughout evolution, humans have had to face strong variation in environmental conditions, with pathogens being among the strongest threats that our species has encountered. The use of population genetic approaches provides novel insights into how natural selection imposed by pathogen pressures, in its different forms and intensities, has shaped the patterns of diversity of the human genome at the population level. These studies help to distinguish genes playing essential, non-redundant functions in host defence from genes variation in which has conferred selective advantages to specific human populations and/or has been acquired through admixture with archaic hominins, such as Neandertals. However, with the improvements in hygiene and the advent of antibiotics and vaccination, pressures imposed by pathogens have recently been relaxed. Accumulating evidence suggests that alleles having conferred an advantage against infection in the past may nowadays be associated with increased risk to develop immune-related disorders, such as autoimmunity and inflammation.
在整个进化过程中,人类不得不面对环境条件的巨大差异,病原体是我们这个物种所遇到的最强大威胁之一。使用群体遗传学方法为病原体压力以不同形式和强度施加的自然选择如何在群体水平上塑造人类基因组的多样性模式提供了新的见解。这些研究有助于区分在宿主防御中发挥重要、非冗余功能的基因与那些其变异赋予特定人类群体选择性优势和/或通过与尼安德特人等古代人类混合而获得的基因。然而,随着卫生条件的改善以及抗生素和疫苗的出现,病原体施加的压力最近有所缓解。越来越多的证据表明,过去曾赋予抗感染优势的等位基因如今可能与患自身免疫和炎症等免疫相关疾病的风险增加有关。