Sample size requirements for association studies of gene-gene interaction
Sample size requirements for association studies of gene-gene interaction
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DOI：
10.1093/aje/155.5.478
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发表时间：
2002-03-01
影响因子：
5
通讯作者：
Gauderman, WJ
中科院分区：
文献类型：
--
作者：
Gauderman, WJ
在复杂疾病的研究中，检验与基因-基因（G x G）相互作用相关的假设可能很重要。这些研究的成功关键取决于获得足够的样本量。本文探讨了G × G交互作用研究的样本量要求，重点讨论了配对病例对照设计、病例同胞设计、病例双亲设计和仅病例设计四种研究设计。所有四种设计都提供了一个乘法尺度上的相互作用估计值，这在样本量要求的比较中用作统一的主题。在各种遗传模型中，仅病例和病例-亲本设计比病例-对照（对）或病例-同胞（对）设计需要更少的采样单位（分别为病例和病例-亲本三重奏）。例如，作者描述了一项关于两个常见隐性基因的哮喘研究，需要270个匹配的病例对照对才能检测出具有80%功效的中等大小的G x G相互作用。相比之下，同样的研究需要319个病例-同胞对，但在病例-父母设计中只有146个三人组，在仅病例设计中只有116个病例。计算G x G相互作用研究和基因-环境（G x E）相互作用研究样本量的软件程序可免费获得（http：//hydra.usc.edu/gxe）。
In the study of complex diseases, it may be important to test hypotheses related to gene-gene (G x G) interaction. The success of such studies depends critically on obtaining adequate sample sizes. In this paper, the author investigates sample size requirements for studies of G x G interaction, focusing on four study designs: the matched-case-control design, the case-sibling design, the case-parent design, and the case-only design. All four designs provide an estimate of interaction on a multiplicative scale, which is used as a unifying theme in the comparison of sample size requirements. Across a variety of genetic models, the case-only and case-parent designs require fewer sampling units (cases and case-parent trios, respectively) than the case-control (pairs) or case-sibling (pairs) design. For example, the author describes an asthma study of two common recessive genes for which 270 matched case-control pairs would be required to detect a G x G interaction of moderate magnitude with 80% power. By comparison, the same study would require 319 case-sibling pairs but only 146 trios in the case-parent design or 116 cases in the case-only design. A software program that computes sample size for studies of G x G interaction and for studies of gene-environment (G x E) interaction is freely available (http://hydra.usc.edu/gxe).