The use of mixture models to perform quantitative tests for linkage disequilibrium, maternal effects, and parent-of-origin effects with incomplete subject-parent triads.
The use of mixture models to perform quantitative tests for linkage disequilibrium, maternal effects, and parent-of-origin effects with incomplete subject-parent triads.
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DOI：
10.1023/a:1026505702343
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发表时间：
2000-07
影响因子：
2.6
通讯作者：
E. Oord
中科院分区：
文献类型：
--
作者：
E. Oord
传递不平衡检验和相关方法需要基因分型病例加上双亲的完整三联体，以在存在人群分层的情况下检验连锁不平衡。基于温伯格（1999 ab）和Schaid和Li（1997）关于二分结果的工作，我们讨论了如何对母体或起源父母效应进行额外的检验，以及在结果是一个定量变量的情况下如何使用不完全的受试者-父母三联体。这是使用有限的混合模型，其中类成员是已知的完整的三和弦和未知的不完整的三和弦。假设不同的遗传模型和各种数量的缺失亲本基因型进行模拟。结果表明，该测试导致准确的I型错误，恢复了大部分缺失基因型造成的信息损失，并产生无偏参数估计。扩展模型的核心家庭，多位点，多个结果变量进行了简要讨论。
The transmission disequilibrium test and related methods require complete triads of genotyped cases plus both parents to test for linkage disequilibrium in the presence of population stratification. Based on the work of Weinberg (1999ab) and Schaid and Li (1997) with dichotomous outcomes, we discuss how additional tests for maternal or parent-of-origin effects can be performed and incomplete subject—parent triads can be used in situations where the outcome is a quantitative variable. This is achieved using a finite mixture model where class membership is known for complete triads and unknown for incomplete triads. Simulations were performed assuming different genetic models and various amounts of missing parental genotypes. Results showed that the tests resulted in accurate Type I errors, recovered much of the loss in information caused by missing genotypes, and yielded unbiased parameter estimates. Extensions of the model to nuclear families, multiple loci, and multiple outcome variables are briefly discussed.