Laird Nan M, Lange Christoph
Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts 02115, USA.
Nat Rev Genet. 2006 May;7(5):385-94. doi: 10.1038/nrg1839.
Both population-based and family-based designs are commonly used in genetic association studies to locate genes that underlie complex diseases. The simplest version of the family-based design--the transmission disequilibrium test--is well known, but the numerous extensions that broaden its scope and power are less widely appreciated. Family-based designs have unique advantages over population-based designs, as they are robust against population admixture and stratification, allow both linkage and association to be tested for and offer a solution to the problem of model building. Furthermore, the fact that family-based designs contain both within- and between-family information has substantial benefits in terms of multiple-hypothesis testing, especially in the context of whole-genome association studies.
基于人群和基于家系的设计在基因关联研究中都常用于定位复杂疾病背后的基因。家系设计的最简单形式——传递不平衡检验——广为人知，但扩展其范围和功效的众多延伸方法却鲜为人知。与基于人群的设计相比，基于家系的设计具有独特优势，因为它们对人群混合和分层具有稳健性，允许同时检验连锁和关联，并为模型构建问题提供解决方案。此外，基于家系的设计包含家系内和家系间信息这一事实，在多重假设检验方面具有显著优势，尤其是在全基因组关联研究的背景下。
