Williams J T, Blangero J
Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Texas 78245-0549, USA.
Genet Epidemiol. 1999;16(2):113-34. doi: 10.1002/(SICI)1098-2272(1999)16:2<113::AID-GEPI1>3.0.CO;2-6.
We compared the statistical performance of sibpair-based and variance components approaches to multipoint linkage analysis of a quantitative trait in unselected samples. As a benchmark dataset, we used the simulated family data from Genetic Analysis Workshop 10 [Goldin et al., 1997], and each method was used to screen all 200 replications of the GAW10 genome for evidence of linkage to quantitative trait Q1. The sibpair and variance components methods were each applied to datasets comprising single-sibpairs and complete sibships, and for further comparison we also applied the variance components method to the nuclear family and extended pedigree datasets. For each analysis, the unbiasedness and efficiency of parameter estimation, the power to detect linkage, and the Type I error rate were estimated empirically. Sibpair and variance components methods exhibited comparable performance in terms of the unbiasedness of the estimate of QTL location and the Type I error rate. Within the single-sibpair and sibship sampling units, the variance components approach gave consistently superior power and efficiency of parameter estimation. Within each method, the statistical performance was improved by the use of the larger and more informative sampling units.
我们比较了基于同胞对和方差成分法在未选择样本中对数量性状进行多点连锁分析的统计性能。作为基准数据集，我们使用了遗传分析研讨会10 [戈尔丁等人，1997年] 的模拟家系数据，并且每种方法都用于筛查GAW10基因组的所有200次复制，以寻找与数量性状Q1连锁的证据。同胞对法和方差成分法分别应用于包含单同胞对和完整同胞关系的数据集，为了进一步比较，我们还将方差成分法应用于核心家系和扩展家系数据集。对于每次分析，通过经验估计参数估计的无偏性和效率、检测连锁的效能以及I型错误率。在QTL定位估计的无偏性和I型错误率方面，同胞对法和方差成分法表现出相当的性能。在单同胞对和同胞关系抽样单位内，方差成分法在参数估计的效能和效率方面始终表现更优。在每种方法中，使用更大且信息更丰富的抽样单位可提高统计性能。
