Cortes Adrian, Dendrou Calliope A, Motyer Allan, Jostins Luke, Vukcevic Damjan, Dilthey Alexander, Donnelly Peter, Leslie Stephen, Fugger Lars, McVean Gil
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Oxford Centre for Neuroinflammation, Nuffield Department of Clinical Neurosciences, Division of Clinical Neurology, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Nat Genet. 2017 Sep;49(9):1311-1318. doi: 10.1038/ng.3926. Epub 2017 Jul 31.
Genetic discovery from the multitude of phenotypes extractable from routine healthcare data can transform understanding of the human phenome and accelerate progress toward precision medicine. However, a critical question when analyzing high-dimensional and heterogeneous data is how best to interrogate increasingly specific subphenotypes while retaining statistical power to detect genetic associations. Here we develop and employ a new Bayesian analysis framework that exploits the hierarchical structure of diagnosis classifications to analyze genetic variants against UK Biobank disease phenotypes derived from self-reporting and hospital episode statistics. Our method displays a more than 20% increase in power to detect genetic effects over other approaches and identifies new associations between classical human leukocyte antigen (HLA) alleles and common immune-mediated diseases (IMDs). By applying the approach to genetic risk scores (GRSs), we show the extent of genetic sharing among IMDs and expose differences in disease perception or diagnosis with potential clinical implications.
从常规医疗保健数据中可提取的众多表型中进行基因发现,能够改变对人类表型组的理解,并加速精准医学的发展进程。然而,在分析高维和异质数据时,一个关键问题是如何在保留检测基因关联的统计效力的同时,最好地探究日益具体的亚表型。在此,我们开发并采用了一种新的贝叶斯分析框架,该框架利用诊断分类的层次结构,针对源自自我报告和医院就诊统计数据的英国生物银行疾病表型分析基因变异。我们的方法在检测基因效应方面比其他方法的效力提高了20%以上,并识别出经典人类白细胞抗原(HLA)等位基因与常见免疫介导疾病(IMD)之间的新关联。通过将该方法应用于遗传风险评分(GRS),我们展示了IMD之间的基因共享程度,并揭示了疾病认知或诊断方面的差异及其潜在临床意义。
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