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Estimation of Trait-Model Parameters in a MOD Score Linkage Analysis

机译：MOD分数联动分析中特征模型参数的估算

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Background/Aims: Theoretically, the trait-model parameters (disease allele frequency and penetrance function) can be estimated without bias in a MOD score linkage analysis. We aimed to practically evaluate the MOD score approach regarding its ability to provide unbiased trait-model parameters for various pedigree-type and trait-model scenarios. We further investigated the ability of the MOD score approach to detect imprinting using affected sib pairs (ASPs) and affected half-sib pairs (AHSPs) when all parental genotypes are missing. Methods: Simulated pedigree data were analyzed using the GENEHUNTER-MODSCORE software package. Parameter estimation performance in terms of bias and variability was evaluated with regard to trait-model type and pedigree complexity. Results: Generally, parameters were estimated with lower bias and variability with increasing pedigree complexity, especially for recessive and over-dominant models. However, dominant and additive models could hardly be distinguished even when using 3-generation pedigrees. Imprinting could clearly be detected for mixtures of mainly ASPs and only few AHSPs with the common parent of the imprinted sex, even though no parental genotypes were available. Conclusion: Our results provide guidance to researchers regarding the possibility to estimate trait-model parameters by a MOD score analysis, including the degree of imprinting, with certain types of pedigrees. (C) 2017 The Author(s) Published by S. Karger AG, Basel
机译：背景/目的：理论上，可以估计Trait-Model参数（疾病等位频率和穿透功能），无偏差在MOD分数连杆分析中。我们旨在实际上评估MOD评分方法，了解其为各种谱系类型和特征模型方案提供无偏见的特征模型参数的能力。我们进一步研究了Mod评分方法使用受影响的SIB对（ASP）来检测印迹的能力，并在缺少所有父母基因型时影响半SIB对（AHSP）。方法：使用基因挡风机-MopScore软件包进行模拟谱系数据。关于特性模型类型和谱系复杂性评估了偏差和变异方面的参数估计性能。结果：一般来说，随着血统复杂性的较低偏差和变异性估计参数，尤其是用于隐性和过度优势模型。然而，即使在使用3代队群时，甚至几乎不能区分主导和添加剂模型。可以清楚地检测到主要的ASPS和少数AHSPS的混合物，即使没有可用的父母基因型，也只有少数AHSPS。结论：我们的结果为研究人员提供了对MOD分数分析来估计特性模型参数的可能性的指导，包括带有某些类型的章程的印迹程度。 （c）2017年由S. Karger AG，巴塞尔发布的提交人

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