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首页> 外文期刊>Clinics in dermatology >Gene-environment interactions in sarcoidosis: challenge and opportunity.
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Gene-environment interactions in sarcoidosis: challenge and opportunity.

机译：结节病中的基因-环境相互作用：挑战和机遇。

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Susceptibility to most human diseases is polygenic, with complex interactions between functional polymorphisms of single genes governing disease incidence, phenotype, or both. In this context, the contribution of any discrete gene is generally modest for a single individual, but may confer substantial attributable risk on a population level. Environmental exposure can modify the effects of a polymorphism, either by providing a necessary substrate for development of human disease or because the effects of a given exposure modulate the effects of the gene. In several diseases, genetic polymorphisms have been shown to be context dependent, ie, the effects of a genetic variant are realized only in the setting of a relevant exposure. Because sarcoidosis susceptibility is dependent on both genetic and environmental modifiers, the study of gene-environment interactions may yield important pathogenetic information and will likely be crucial for uncovering the range of genetic susceptibility loci. The complexity of these relationships implies, however, that investigations of gene-environment interactions will require the study of large cohorts with carefully defined exposures and similar clinical phenotypes. A general principle is that the study of gene-environment interactions requires a sample size at least severalfold greater than for either factor alone. To date, the presence of environmental modifiers has been demonstrated for one sarcoidosis susceptibility locus, HLA-DQB1, in African-American families. This article reviews general considerations obtaining for the study of gene-environment interactions in sarcoidosis. It also describes the limited current understanding of the role of environmental influences on sarcoidosis susceptibility genes.
机译：大多数人类疾病的易感性是多基因的，控制疾病发生率，表型或两者的单一基因的功能多态性之间存在复杂的相互作用。在这种情况下，任何离散基因的贡献通常对于单个个体而言都是适度的，但是可能在人群水平上带来实质性的归因风险。环境暴露可以通过提供人类疾病发展的必要底物或因为给定暴露的影响调节基因的作用来修饰多态性的作用。在几种疾病中，遗传多态性已显示是取决于上下文的，即，仅在相关暴露的情况下才能实现遗传变异的影响。由于结节病的易感性取决于遗传和环境因素，因此对基因-环境相互作用的研究可能会产生重要的病原学信息，并且对于揭示遗传易感性基因座的范围可能至关重要。但是，这些关系的复杂性意味着，对基因与环境相互作用的研究将需要研究具有明确定义的暴露水平和相似临床表型的大型队列。一般原则是，基因与环境相互作用的研究要求样本量至少是单独使用任一因素的样本量的至少几倍。迄今为止，在非裔美国人家庭中，一种结节病易感性基因位点HLA-DQB1已证明存在环境修饰剂。本文概述了结节病中基因与环境相互作用研究的一般注意事项。它还描述了对环境影响对结节病易感基因的作用的有限的当前了解。

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