Detection of Parent-of-Origin Effects Based on Complete and Incomplete Nuclear Families with Multiple Affected Children
Detection of Parent-of-Origin Effects Based on Complete and Incomplete Nuclear Families with Multiple Affected Children
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DOI：
10.1159/000164394
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发表时间：
2009-01-01
期刊：
影响因子：
1.8
通讯作者：
Fung, Wing K.
中科院分区：
文献类型：
--
作者：
Zhou, Ji-Yuan;Hu, Yue-Qing;Fung, Wing K.
亲本效应在遗传性状研究中具有重要意义。据信，超过1%的哺乳动物基因显示出起源父母效应。一些统计方法可能是无效的，或无法检测基因与亲本效应的连锁或关联。双亲不对称性检验（PAT）是一种简单而有效的检测双亲效应的方法。然而，在实践中，收集父母双方的核心家庭以及只有一方父母的核心家庭是常见的。在本文中，当每个家庭只有一个父母与任意数量的受影响的儿童，我们首先开发了一个新的测试统计量1-PAT来测试父母的起源效应之间的关联在研究中的标记位点的等位基因和疾病基因的存在。然后，我们将PAT扩展到容纳每个有一个或多个受影响儿童的完整核心家庭。结合双亲家系和单亲家系，提出了C-PAT方法来检测双亲效应。在各种参数值的情况下，通过仿真验证了检验统计量的有效性。功效研究表明，在分析中使用来自不完全核心家庭的额外信息，大大提高了测试的功效，相比，仅基于完全核心家庭。此外，利用每个家庭中的所有受影响的儿童，所提出的测试具有更高的权力比当只有一个受影响的儿童从每个家庭被选中。额外的功效比较还表明，C-PAT比许多其他检测原产地亲本效应的检验更有效。版权所有（C）2008 S. Karger AG，巴塞尔
Parent-of-origin effects are important in studying genetic traits. More than 1% of all mammalian genes are believed to show parent-of-origin effects. Some statistical methods may be ineffective or fail to detect linkage or association for a gene with parent-of-origin effects. Based on case-parents trios, the parental-asymmetry test ( PAT) is simple and powerful in detecting parent-of-origin effects. However, it is common in practice to collect nuclear families with both parents as well as nuclear families with only one parent. In this paper, when only one parent is available for each family with an arbitrary number of affected children, we firstly develop a new test statistic 1-PAT to test for parent-of-origin effects in the presence of association between an allele at the marker locus under study and a disease gene. Then we extend the PAT to accommodate complete nuclear families each with one or more affected children. Combining families with both parents and families with only one parent, the C-PAT is proposed to detect parent-of-origin effects. The validity of the test statistics is verified by simulation in various scenarios of parameter values. A power study shows that using the additional information from incomplete nuclear families in the analysis greatly improves the power of the tests, compared to that based on only complete nuclear families. Also, utilizing all affected children in each family, the proposed tests have a higher power than when only one affected child from each family is selected. Additional power comparison also demonstrates that the C-PAT is more powerful than a number of other tests for detecting parent-of-origin effects. Copyright (C) 2008 S. Karger AG, Basel