Satagopan Jaya M, Iasonos Alexia, Zhou Qin
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York, United States of America.
Genet Epidemiol. 2015 Nov;39(7):509-17. doi: 10.1002/gepi.21917. Epub 2015 Sep 9.
The current era of targeted treatment has accelerated the interest in studying gene-treatment, gene-gene, and gene-environment interactions using statistical models in the health sciences. Interactions are incorporated into models as product terms of risk factors. The statistical significance of interactions is traditionally examined using a likelihood ratio test (LRT). Epidemiological and clinical studies also evaluate interactions in order to understand the prognostic and predictive values of genetic factors. However, it is not clear how different types and magnitudes of interaction effects are related to prognostic and predictive values. The contribution of interaction to prognostic values can be examined via improvements in the area under the receiver operating characteristic curve due to the inclusion of interaction terms in the model (ΔAUC). We develop a resampling based approach to test the significance of this improvement and show that it is equivalent to LRT. Predictive values provide insights into whether carriers of genetic factors benefit from specific treatment or preventive interventions relative to noncarriers, under some definition of treatment benefit. However, there is no unique definition of the term treatment benefit. We show that ΔAUC and relative excess risk due to interaction (RERI) measure predictive values under two specific definitions of treatment benefit. We investigate the properties of LRT, ΔAUC, and RERI using simulations. We illustrate these approaches using published melanoma data to understand the benefits of possible intervention on sun exposure in relation to the MC1R gene. The goal is to evaluate possible interventions on sun exposure in relation to MC1R.
当前的靶向治疗时代加速了人们在健康科学领域利用统计模型研究基因治疗、基因-基因以及基因-环境相互作用的兴趣。相互作用作为风险因素的乘积项纳入模型。传统上使用似然比检验(LRT)来检验相互作用的统计学显著性。流行病学和临床研究也评估相互作用,以了解遗传因素的预后和预测价值。然而,尚不清楚不同类型和大小的相互作用效应如何与预后和预测价值相关。可以通过在模型中纳入相互作用项后受试者工作特征曲线下面积的改善(ΔAUC)来检验相互作用对预后价值的贡献。我们开发了一种基于重采样的方法来检验这种改善的显著性,并表明它等同于LRT。预测价值提供了关于在某种治疗益处定义下,相对于非携带者,遗传因素携带者是否能从特定治疗或预防干预中获益的见解。然而,“治疗益处”一词并没有唯一的定义。我们表明,ΔAUC和相互作用导致的相对超额风险(RERI)在两种特定的治疗益处定义下衡量预测价值。我们使用模拟研究LRT、ΔAUC和RERI的性质。我们用已发表的黑色素瘤数据说明这些方法,以了解与MC1R基因相关的阳光暴露可能干预的益处。目标是评估与MC1R相关的阳光暴露可能的干预措施。