Wojczynski Mary K, Tiwari Hemant K
Department of Biostatistics, Section on Statistical Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Adv Genet. 2008;60:75-105. doi: 10.1016/S0065-2660(07)00404-X.
Definition of the phenotype is crucial in designing any genetic study, especially an association study, intended to detect the disease predisposing genes. In this chapter, we review the different types of phenotypes such as discrete or continuous and discuss the issues impacting on the phenotype definition related to study design, specifically, the impact of diagnostic error (misclassification) in case-control studies and measurement error in continuous traits. We show that the power of a study depends heavily on the phenotype measured and that misclassification or measurement error can dramatically reduce the power. We also suggest some possible responses to these challenges.
在设计任何旨在检测疾病易感基因的遗传学研究，尤其是关联研究时，表型的定义至关重要。在本章中，我们回顾了不同类型的表型，如离散型或连续型，并讨论了与研究设计相关的影响表型定义的问题，具体而言，病例对照研究中的诊断错误（错误分类）以及连续性状中的测量误差的影响。我们表明，一项研究的效能在很大程度上取决于所测量的表型，并且错误分类或测量误差会显著降低效能。我们还针对这些挑战提出了一些可能的应对措施。
