作者: Stephen J. Chapman , Adrian V. S. Hill
DOI: 10.1038/NRG3114
关键词: Genetic architecture 、 Phenotype 、 Genome 、 Genetic variation 、 Biology 、 Host defence 、 Immune system 、 Infectious disease (medical specialty) 、 Genetic predisposition 、 Genetics
摘要: Recent genome-wide studies have reported novel associations between common polymorphisms and susceptibility to many major infectious diseases in humans. In parallel, an increasing number of rare mutations underlying specific phenotypes disease been described. Together, these developments highlighted a key role for host genetic variation determining the disease. They also provided insights into architecture identified immune molecules pathways that are directly relevant human defence.