X染色体数量性状位点亲本效应的两个有力检验。

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Human Heredity Pub Date : 2018-01-01 Epub Date: 2019-04-08 DOI:10.1159/000496987
Pui Yin Lau, Kar Fu Yeung, Ji-Yuan Zhou, Wing Kam Fung
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引用次数: 0

摘要

亲本效应是表观遗传学中的一个重要现象,它描述了一个基因的表达取决于其亲本起源的情况。检测双亲双亲对常染色体影响的统计方法已经研究了20年,但检测双亲双亲对X染色体影响的统计方法的发展相对较新。在文献中,一类q - xpat型检验是对X染色体数量性状的亲本效应的唯一检验。在本文中,我们提出了两个简单而强大的测试类来检测双亲起源对X染色体上数量性状值的影响。拟议的测试可以适用于有任意数目女儿的完整或不完整的核心家庭。仿真研究表明,我们提出的测试产生的经验I型错误率接近其各自的标称水平,并且功率大于q - xpat型测试的错误率。所提出的测试应用于特纳综合征的真实数据集,所提出的测试给出了比Q-C-XPAT测试更重要的发现。
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Two Powerful Tests for Parent-of-Origin Effects at Quantitative Trait Loci on the X Chromosome.

Parent-of-origin effects, which describe an occurrence where the expression of a gene depends on its parental origin, are an important phenomenon in epigenetics. Statistical methods for detecting parent-of-origin effects on autosomes have been investigated for 20 years, but the development of statistical methods for detecting parent-of-origin effects on the X chromosome is relatively new. In the literature, a class of Q-XPAT-type tests are the only tests for the parent-of-origin effects for quantitative traits on the X chromosome. In this paper, we propose two simple and powerful classes of tests to detect parent-of-origin effects for quantitative trait values on the X chromosome. The proposed tests can accommodate complete and incomplete nuclear families with any number of daughters. The simulation study shows that our proposed tests produce empirical type I error rates that are close to their respective nominal levels, as well as powers that are larger than those of the Q-XPAT-type tests. The proposed tests are applied to a real data set on Turner's syndrome, and the proposed tests give a more significant finding than the Q-C-XPAT test.

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来源期刊
Human Heredity
Human Heredity 生物-遗传学
CiteScore
2.50
自引率
0.00%
发文量
12
审稿时长
>12 weeks
期刊介绍: Gathering original research reports and short communications from all over the world, ''Human Heredity'' is devoted to methodological and applied research on the genetics of human populations, association and linkage analysis, genetic mechanisms of disease, and new methods for statistical genetics, for example, analysis of rare variants and results from next generation sequencing. The value of this information to many branches of medicine is shown by the number of citations the journal receives in fields ranging from immunology and hematology to epidemiology and public health planning, and the fact that at least 50% of all ''Human Heredity'' papers are still cited more than 8 years after publication (according to ISI Journal Citation Reports). Special issues on methodological topics (such as ‘Consanguinity and Genomics’ in 2014; ‘Analyzing Rare Variants in Complex Diseases’ in 2012) or reviews of advances in particular fields (‘Genetic Diversity in European Populations: Evolutionary Evidence and Medical Implications’ in 2014; ‘Genes and the Environment in Obesity’ in 2013) are published every year. Renowned experts in the field are invited to contribute to these special issues.
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