Clementi Maurizio, Di Gianantonio Elena
CEPIG, Genetica Clinica Epidemiologica, Dipartimento di Pediatria, Università degli studi, Padova, Italy.
Reprod Toxicol. 2006 May;21(4):345-9. doi: 10.1016/j.reprotox.2005.08.006. Epub 2005 Oct 25.
The clinical outcome of infectious disease (ID) is determined by a complex interaction between microorganism, host genetic factors and environment. Epidemiological studies have revealed differences within and between populations exposed to the same infectious agent, and in the prevalence or severity of the disease, underlying the relevance of the genetic background. Population genetic studies have estimated the genetic component (susceptibility) in the ID determination and have identified some susceptibility gene(s)/polymorphism(s). This paper describes the methods used in genetic epidemiology. Complex segregation analysis is used to define genetic models. Parametric linkage analysis and association studies are used to identify polymorphisms strongly linked to the disease. Genome-wide scan and microarray technology are used to map and identify major genes for ID. Future developments will identify subgroups of subjects at different risks of developing ID.
传染病(ID)的临床结局由微生物、宿主遗传因素和环境之间的复杂相互作用决定。流行病学研究揭示了暴露于相同传染源的人群内部和人群之间在疾病患病率或严重程度方面存在差异,这突出了遗传背景的相关性。群体遗传学研究估计了传染病易感性中的遗传成分,并确定了一些易感基因/多态性。本文描述了遗传流行病学中使用的方法。复杂分离分析用于定义遗传模型。参数连锁分析和关联研究用于识别与疾病紧密连锁的多态性。全基因组扫描和微阵列技术用于绘制和识别传染病的主要基因。未来的发展将识别出具有不同传染病发病风险的亚组人群。