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Using a Bayesian latent variable approach to detect pleiotropy in the Genetic Analysis Workshop 18 data

机译:在遗传分析研讨会上使用贝叶斯潜变量方法检测多效性18数据

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摘要

Pleiotropy, which occurs when a single genetic factor influences multiple phenotypes, is present in many genetic studies of complex human traits. Longitudinal family data, such as the Genetic Analysis Workshop 18 data, combine the features of longitudinal studies in individuals and cross-sectional studies in families, thus providing richer information about the genetic and environmental factors associated with the trait of interest. We recently proposed a Bayesian latent variable methodology for the study of pleiotropy, in the presence of longitudinal and family correlation. The purpose of this work is to evaluate the Bayesian latent variable method in a real data setting using the Genetic Analysis Workshop 18 blood pressure phenotypes and sequenced genotype data. To detect single-nucleotide polymorphisms with pleiotropic effect on both diastolic and systolic blood pressure, we focused on a set of 6 single-nucleotide polymorphisms from chromosome 3 that was reported in the literature to be significantly associated with either diastolic blood pressure or the binary hypertension trait. Our analysis suggests that both diastolic blood pressure and systolic blood pressure are associated with the latent hypertension severity variable, but the analysis did not find any of the 6 single-nucleotide polymorphisms to have statistically significant pleiotropic effect on both diastolic blood pressure and systolic blood pressure.
机译:多发性是在单个遗传因素影响多种表型时发生的,在许多复杂的人类特征遗传研究中都存在。纵向家庭数据,例如遗传分析研讨会18的数据,结合了个人纵向研究和家庭横断面研究的特征,从而提供了与感兴趣的性状相关的遗传和环境因素的丰富信息。我们最近提出了一种在纵向和家庭相关的情况下用于多效性研究的贝叶斯潜变量方法。这项工作的目的是使用遗传分析工作室18血压表型和测序基因型数据,在真实数据设置中评估贝叶斯潜变量方法。为了检测对舒张压和收缩压均具有多效性的单核苷酸多态性,我们集中研究了3号染色体上的一组6个单核苷酸多态性,文献中报道这些单态性与舒张压或二元高血压显着相关特征。我们的分析表明,舒张压和收缩压均与潜在的高血压严重程度变量相关,但分析未发现6种单核苷酸多态性对舒张压和收缩压均具有统计学意义的多效性。

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