Ascertainment and goodness of fit of variance component models for pedigree data.
Ascertainment and goodness of fit of variance component models for pedigree data.
复制标题
谱系数据方差分量模型的确定和拟合优度。
DOI：
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发表时间：
1984
期刊：
影响因子：
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通讯作者：
K. Lange
中科院分区：
文献类型：
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作者：
M. Boehnke;K. Lange
多基因模型的多变量正态参数化（Lange et al.，1976）为分析谱系的定量数据提供了很大的灵活性。采用的似然方法确保了统计效率，并允许使用似然比标准进行假设检验。参数化还有助于确定校正和拟合优度测试（Spence等人，1977; Ott，1979; Hopper和马修斯，1982; Boehnke，1983）。我们回顾了这些结果，然后描述了一个模拟研究，以确定其效用时，应用于数据。系谱数据是在多基因和混合模型下产生的，并随机或通过先证者取样。我们发现，该模型的方差分量的准确估计随机抽样，但不太确定的数据分析的先证者的条件。拟合优度检验采用对应于个体表型和整个谱系的检验统计量是保守的，但谱系检验确实表现出合理的能力来拒绝各种混合模型的替代方案。此外，我们发现，系谱检验统计量可以用来丰富的系谱样本的那些系谱分离在一个主要的基因座，提供了一个客观的标准选择系谱被列入连锁分析。
The multivariate normal parameterization of the polygenic model (Lange et al., 1976) provides a great deal of flexibility for analyzing quantitative data on pedigrees. The likelihood approach employed ensures statistical efficiency and allows for hypothesis testing using the likelihood ratio criterion. The parameterization also facilitates ascertainment correction and goodness-of-fit testing (Spence et al., 1977; Ott, 1979; Hopper and Mathews, 1982; Boehnke, 1983). We reviewed these results and then described a simulation study undertaken to determine their utility when applied to data. Pedigree data were generated under polygenic and mixed models and sampled either randomly or via probands. We found that the variance components of the model were accurately estimated for random sampling, but less so for ascertained data analyzed by conditioning on probands. Goodness-of-fit tests employing test statistics corresponding to individual phenotypes and entire pedigrees were conservative, but pedigree tests did demonstrate reasonable power to reject a variety of mixed model alternatives. In addition, we found that the pedigree test statistics could be used to enrich a sample of pedigrees for those pedigrees segregating at a major locus, providing an objective criterion for choosing pedigrees to be included in a linkage analysis.