Debré Patrice, Le Gall Jean-Yves
Bull Acad Natl Med. 2013 Jan;197(1):157-71.
About one-quarter of deaths worldwide (nearly 13 million per year) are still directly related to infectious diseases. Many new infections have emerged since the end of the 20th century and others will continue to do so. Human beings, like other animals, are not all equal with respect to their susceptibility to infection. Since the 1930s, numerous epidemiological studies have shown that host genetic factors play a major role in susceptibility and resistance to infections. Studies of Mendelian genetics and genetic epidemiology based on association studies, now using high-speed typing of anonymous polymorphic markers, can detect genes or loci that influence an individual's response to a particular germ. Different cases of susceptibility or resistance to viral, bacterial, fungal and parasitic infections will be used to illustrate the importance of genetic factors in the diagnosis of clinical manifestations and their prevention, characterization of host immune responses, and their influence on evolutionary biology. With different phenotypes associated with genetic polymorphisms, and new genomic techniques, the genetics of infectious diseases is entering a new era, raising questions of medical practice, ethics, and public and industrial policies.
全球约四分之一的死亡（每年近1300万）仍与传染病直接相关。自20世纪末以来，出现了许多新的感染病例，并且其他新感染病例还会不断出现。人类与其他动物一样，在对感染的易感性方面并非完全相同。自20世纪30年代以来，大量流行病学研究表明，宿主遗传因素在对感染的易感性和抵抗力方面起着主要作用。基于关联研究的孟德尔遗传学和遗传流行病学研究，如今通过对匿名多态性标记进行高速分型，能够检测出影响个体对特定病原体反应的基因或基因座。将通过对病毒、细菌、真菌和寄生虫感染的不同易感性或抵抗力案例，来说明遗传因素在临床表现诊断及其预防、宿主免疫反应特征描述以及对进化生物学影响方面的重要性。由于遗传多态性与不同的表型相关，以及新的基因组技术的出现，传染病遗传学正进入一个新时代，引发了医学实践、伦理以及公共和产业政策等方面的问题。
