一种模拟复杂疾病中基因-环境相互作用的新方法
A novel approach to simulate gene-environment interactions in complex diseases
摘要：
复杂性疾病是由遗传和环境因素引起的多因素特征。它们代表了人类疾病的大部分，包括流行率和死亡率最高的疾病（癌症、心脏病、肥胖症等）。尽管已经收集了大量关于遗传和环境风险因素的信息，但在流行病学文献中关于其相互作用的研究实例相对较少。原因之一可能是对统计方法的力量的不完全了解，这些方法旨在搜索这些数据集中的风险因素及其相互作用。在这方面的改进将导致更好地理解和描述基因-环境相互作用。为此，一种可能的策略是针对数据集挑战不同的统计方法，其中基本现象是完全已知和完全可控的，例如模拟的。我们提出了一种数学方法，模型基因与环境的相互作用。通过这种方法，可以产生具有任何形式的基因-环境相互作用的模拟种群。我们在基因-环境交互作用模拟器（GENS）中实现了该模型的一个简单版本，该工具旨在模拟病例对照数据集，其中一个基因-一个环境交互作用影响疾病风险。主要的努力是允许用户使用标准的流行病学措施来描述人口的特征，并实施约束，使模拟器的行为具有生物学意义。
英文摘要：
Complex diseases are multifactorial traits caused by both genetic and environmental factors. They represent the most part of human diseases and include those with largest prevalence and mortality (cancer, heart disease, obesity, etc.). Despite of a large amount of information that have been collected about both genetic and environmental risk factors, there are relatively few examples of studies on their interactions in epidemiological literature. One reason can be the incomplete knowledge of the power of statistical methods designed to search for risk factors and their interactions in this data sets. An improving in this direction would lead to a better understanding and description of gene-environment interaction. To this aim, a possible strategy is to challenge the different statistical methods against data sets where the underlying phenomenon is completely known and fully controllable, like for example simulated ones. We present a mathematical approach that models gene-environment interactions. By this method it is possible to generate simulated populations having gene-environment interactions of any form. We implemented a simple version of this model in a Gene-Environment iNteraction Simulator (GENS), a tool designed to simulate case-control data sets where a one gene-one environment interaction influences the disease risk. The main effort has been to allow user to describe characteristics of population by using standard epidemiological measures and to implement constraints to make the simulator behavior biologically meaningful.
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