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Estimation of Trait-Model Parameters in a MOD Score Linkage Analysis.
Human Heredity ( IF 1.8 ) Pub Date : 2017-11-14 , DOI: 10.1159/000479738
Markus Brugger 1 , Susanne Rospleszcz , Konstantin Strauch
Affiliation  

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 overdominant 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.

中文翻译:

MOD得分链接分析中特征模型参数的估计。

背景/理论上,在MOD评分连锁分析中,可以无偏差地估计特征模型参数(疾病等位基因频率和外显功能)。我们旨在就其为各种谱系类型和特质模型场景提供无偏特征模型参数的能力,实际评估MOD评分方法。当所有父母基因型均缺失时,我们进一步研究了MOD评分方法使用受影响的同胞对(ASP)和受影响的半同胞对(AHSP)检测印迹的能力。方法使用GENEHUNTER-MODSCORE软件包分析了家谱数据。关于特质模型类型和谱系复杂性,评估了根据偏差和变异性进行的参数估计性能。结果通常,估计参数时,偏倚和变异性随谱系复杂度的增加而降低,尤其是对于隐性模型和优势模型而言。但是,即使使用3代谱系,也很难区分主导模型和加性模型。即使没有亲本基因型,也可以清楚地检测到主要是ASP和只有少数AHSP与被印性别共同父母的混合物的印记。结论我们的研究结果为研究人员提供了通过MOD评分分析来估计特质模型参数的可能性的指导,其中包括某些类型的谱系的印迹程度。即使没有亲本基因型,也可以清楚地检测到主要是ASP和只有少数AHSP与被印性别共同父母的混合物的印记。结论我们的研究结果为研究人员就通过MOD评分分析估计特征模型参数的可能性提供了指导,其中包括某些类型的谱系的印迹程度。即使没有亲本基因型,也可以清楚地检测到主要是ASP和只有少数AHSP与被印性别共同父母的混合物的印记。结论我们的研究结果为研究人员提供了通过MOD评分分析来估计特质模型参数的可能性的指导,其中包括某些类型的谱系的印迹程度。
更新日期:2019-11-01
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