Institut Pasteur, Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, F-75015 Paris, France.
Cold Spring Harb Perspect Med. 2013 Jan 1;3(1):a012450. doi: 10.1101/cshperspect.a012450.
Progress in genomic technologies, such as DNA arrays and next-generation sequencing, is allowing systematic characterization of the degree of human genetic variation at the scale of individual genomes. Public efforts, such as the International HapMap Project and the 1000 Genomes Project, have provided a realistic picture of the levels of genetic diversity in individuals and populations. These genomic techniques are also making it possible to evaluate the contribution of host genetic diversity to differences in susceptibility to both rare and common infectious diseases. Recent studies have revealed the power of whole-exome sequencing for dissecting the immunological mechanisms underlying the pathogenesis of severe, rare infectious diseases. Likewise, genome-wide association studies on common viral, bacterial, and parasitic infections have shed light on the host genetic basis of susceptibility to infectious diseases and, in some cases, of disease progression and drug responses.
基因组技术的进步，如 DNA 芯片和新一代测序技术，使得在个体基因组规模上系统地描述人类遗传变异程度成为可能。国际人类基因组单体型图计划和 1000 基因组计划等公共努力，为个体和人群的遗传多样性水平提供了现实的图景。这些基因组技术也使得评估宿主遗传多样性对罕见和常见传染病易感性差异的贡献成为可能。最近的研究揭示了全外显子组测序在剖析严重罕见传染病发病机制中的免疫学机制方面的强大功能。同样，对常见病毒、细菌和寄生虫感染的全基因组关联研究揭示了宿主对传染病易感性的遗传基础，在某些情况下还揭示了疾病进展和药物反应的遗传基础。
