Center for Quantitative Genetics and Genomics, Aarhus University, Aarhus, Denmark.
Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia; Frazer Institute, University of Queensland, Brisbane, QLD, Australia; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Am J Hum Genet. 2024 Apr 4;111(4):680-690. doi: 10.1016/j.ajhg.2024.02.010. Epub 2024 Mar 14.
We propose TetraHer, a method for estimating the liability heritability of binary phenotypes. TetraHer has five key features. First, it can be applied to data from complex pedigrees that contain multiple types of relationships. Second, it can correct for ascertainment of cases or controls. Third, it can accommodate covariates. Fourth, it can model the contribution of common environment. Fifth, it produces a likelihood that can be used for significance testing. We first demonstrate the validity of TetraHer on simulated data. We then use TetraHer to estimate liability heritability for 229 codes from the tenth International Classification of Diseases (ICD-10). We identify 107 codes with significant heritability (p < 0.05/229), which can be used in future analyses for investigating the genetic architecture of human diseases.
我们提出了 TetraHer，一种用于估计二项表型的责任遗传力的方法。TetraHer 有五个关键特征。首先，它可以应用于包含多种关系的复杂家系的数据。其次，它可以纠正病例或对照的确定。第三，它可以容纳协变量。第四，它可以对共同环境的贡献进行建模。第五，它产生的似然可以用于进行显著性检验。我们首先在模拟数据上验证了 TetraHer 的有效性。然后，我们使用 TetraHer 对第十届国际疾病分类（ICD-10）的 229 个代码进行了责任遗传力的估计。我们确定了 107 个具有显著遗传力的代码（p < 0.05/229），这些代码可用于未来的分析，以研究人类疾病的遗传结构。
