Detection of Imprinting Effects for Quantitative Traits on X Chromosome Using Nuclear Families with Multiple Daughters
Detection of Imprinting Effects for Quantitative Traits on X Chromosome Using Nuclear Families with Multiple Daughters
复制标题
利用多子代核心家族检测 X 染色体数量性状印记效应
DOI：
10.1111/ahg.12195
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发表时间：
2017-07-01
影响因子：
1.9
通讯作者：
Fung, Wing Kam
中科院分区：
文献类型：
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作者：
Yu, Kexin;Zhou, Ji-Yuan;Fung, Wing Kam
基因组印记是一种表观遗传现象，其中等位基因拷贝的表达取决于其亲本来源。这一机制在许多复杂疾病中发挥着重要作用。印迹效应的统计检验已经发展了15年多，但它们只适用于常染色体。直到最近，X染色体上的父母不对称性测试（XPAT）才被提出来测试印记效应。然而，该测试只能用于定性性状。因此，在这篇文章中，我们提出了一类PAT-型测试，以测试在存在关联的情况下X染色体上的数量性状的印记，即Q-XPAT（c），Q-1-XPAT（c）和Q-C-XPAT（c），其中c是常数。这些方法可以容纳具有任意数量女儿的完整和不完整的核心家庭。广泛的模拟研究表明，所提出的测试控制的大小以及零假设下没有印迹效应，是强大的各种家庭结构。此外，通过设置雌性的近交系数为非零，并在模拟中使用替代交配模式，所提出的测试是有效的Hardy-Weinberg不平衡。
Genomic imprinting is an epigenetic phenomenon in which the expression of an allele copy depends on its parental origin. This mechanism has been found to play an important role in many complex diseases. Statistical tests for imprinting effects have been developed for more than 15 years, but they are only suitable for autosomes. It was not until recently that the parental‐asymmetry test on the X chromosome (XPAT) was proposed to test for imprinting effects. However, this test can only be used for qualitative traits. Therefore, in this article, we propose a class of PAT‐type tests to test for imprinting for quantitative traits on the X chromosome in the presence of association, namely, Q‐XPAT(c), Q‐1‐XPAT(c) and Q‐C‐XPAT(c), where c is a constant. These methods can accommodate complete and incomplete nuclear families with an arbitrary number of daughters. Extensive simulation studies demonstrate that the proposed tests control the size well under the null hypothesis of no imprinting effects and are powerful under various family structures. Moreover, by setting the inbreeding coefficient in females to be nonzero and using the assortative mating pattern in simulations, the proposed tests are shown to be valid under Hardy–Weinberg disequilibrium.