X-chromosome genetic association test incorporating X-chromosome inactivation and imprinting effects
X-chromosome genetic association test incorporating X-chromosome inactivation and imprinting effects
复制标题
结合 X 染色体失活和印记效应的 X 染色体遗传关联测试
DOI：
10.1007/s12041-019-1146-6
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发表时间：
2019-09-01
影响因子：
1.5
通讯作者：
Zhou, Ji-Yuan
中科院分区：
文献类型：
--
作者：
Liu, Wei;Wang, Bei-Qi;Zhou, Ji-Yuan
研究表明，许多复杂的疾病是由性别决定的。在对X染色体进行遗传关联研究时，有两个重要的表观遗传因素需要同时考虑：X染色体失活和基因组印记。目前，已经有几种关联测试解释了X染色体失活的信息。然而，这些测试没有考虑印记效应。在这篇文章中，我们提出了一种新的关联检验，同时结合X染色体失活和印记效应，基于病例-亲本三元组和对照-亲本三元组对雌性后代和对男性后代的病例对照数据，表示为。通过大量的仿真研究，研究了该算法的I类误码率和测试功率。仿真结果表明，该方法能很好地控制I类误码率，并且在存在印记效应的情况下比已有的方法更有效。该方法在X染色体与品质性状的遗传关联研究中是有效和强大的，值得在实践中推广。
Studies have shown that many complex diseases are sex-determined. When conducting genetic association studies on X-chromosome, there are two important epigenetic factors which should be considered simultaneously: X-chromosome inactivation and genomic imprinting. Currently, there have been several association tests accounting for the information on X-chromosome inactivation. However, these tests do not take the imprinting effects into account. In this paper, we propose a novel association test simultaneously incorporating X-chromosome inactivation and imprinting effects based on case–parent trios and control–parent trios for female offspring and case–control data for male offspring, denoted by. Extensive simulation studies are carried out to investigate the type I error rate and the test power of the proposed. Simulation results demonstrate that the proposed test controls the type I error rate well and is more powerful than the existing method when imprinting effects exist. The proposedtest is valid and powerful in genetic association studies on X-chromosome for qualitative traits and thus is recommended in practice.