Sham P C, Cherny S S, Purcell S, Hewitt J K
Social, Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, London SE5 8AF, United Kingdom.
Am J Hum Genet. 2000 May;66(5):1616-30. doi: 10.1086/302891. Epub 2000 Apr 12.
Optimal design of quantitative-trait loci (QTL) mapping studies requires a precise understanding of the power of QTL linkage versus QTL association analysis, under a range of different conditions. In this article, we investigate the power of QTL linkage and association analyses for simple random sibship samples, under the variance-components model proposed by Fulker et al. After a brief description of an extension of this variance-components model, we show that the powers of both linkage and association analyses are crucially dependent on the proportion of phenotypic variance attributable to the QTL. The main difference between the two tests is that, whereas the power of association is directly related to the QTL heritability, the power of linkage is related more closely to the square of the QTL heritability. We also describe both how the power of linkage is attenuated by incomplete linkage and incomplete marker information and how the power of association is attenuated by incomplete linkage disequilibrium.
数量性状基因座(QTL)定位研究的优化设计需要在一系列不同条件下,精确理解QTL连锁分析与QTL关联分析的效能。在本文中,我们依据Fulker等人提出的方差成分模型,研究了简单随机同胞样本的QTL连锁分析与关联分析的效能。在简要描述该方差成分模型的扩展之后,我们表明连锁分析与关联分析的效能都关键取决于可归因于QTL的表型方差比例。这两种检验的主要差异在于,关联分析的效能直接与QTL遗传力相关,而连锁分析的效能则更紧密地与QTL遗传力的平方相关。我们还描述了连锁分析的效能如何因不完全连锁和不完全标记信息而减弱,以及关联分析的效能如何因不完全连锁不平衡而减弱。