McLaren Paul J, Fellay Jacques, Telenti Amalio
Institute of Microbiology, University Hospital Center, University of Lausanne, Lausanne, Switzerland.
Hum Hered. 2013;76(3-4):187-93. doi: 10.1159/000357758. Epub 2014 May 21.
Infectious diseases, both in their endemic and epidemic forms, have shaped the human genome. Ecology has also contributed to geographically constrained pressures on human populations. There are now multiple examples of population-specific genetic variants that modulate susceptibility to infection - several of which have been observed solely in Europeans. The pathogen genome also mutates and adapts to individuals and common alleles in populations. The current understanding has benefited from genome-wide association studies as well as from rapid progress in the genetic characterization of Mendelian immunodeficiencies that are defined by susceptibility to specific pathogens. It is expected that current efforts to characterize rare human genetic variants will contribute to the understanding of severe manifestations of common infections in European and other human groups.
传染病,无论是地方病形式还是流行病形式,都塑造了人类基因组。生态环境也对人类群体造成了地域上的限制压力。现在有多个特定人群的基因变异调节感染易感性的例子——其中一些仅在欧洲人群中被观察到。病原体基因组也会发生突变,并适应个体和群体中的常见等位基因。目前的认识得益于全基因组关联研究以及孟德尔免疫缺陷病遗传特征的快速进展,孟德尔免疫缺陷病是由对特定病原体的易感性所定义的。预计目前对罕见人类基因变异进行特征描述的努力将有助于理解欧洲人和其他人类群体中常见感染的严重表现。