代谢疾病的遗传学基础。
The Genetic Basis of Metabolic Disease.
机构信息
Wellcome Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Wellcome Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK; Oxford Centre for Diabetes, Endocrinology, and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK.
出版信息
Cell. 2019 Mar 21;177(1):146-161. doi: 10.1016/j.cell.2019.02.024.
Recent developments in genetics and genomics are providing a detailed and systematic characterization of the genetic underpinnings of common metabolic diseases and traits, highlighting the inherent complexity within systems for homeostatic control and the many ways in which that control can fail. The genetic architecture underlying these common metabolic phenotypes is complex, with each trait influenced by hundreds of loci spanning a range of allele frequencies and effect sizes. Here, we review the growing appreciation of this complexity and how this has fostered the implementation of genome-scale approaches that deliver robust mechanistic inference and unveil new strategies for translational exploitation.
遗传学和基因组学的最新发展为常见代谢性疾病和特征的遗传基础提供了详细而系统的描述，突出了体内平衡控制系统的固有复杂性以及该控制系统失效的多种方式。这些常见代谢表型的遗传结构非常复杂，每个特征都受到数百个基因座的影响，这些基因座跨越了一系列等位基因频率和效应大小。在这里，我们回顾了对这种复杂性的认识不断提高的情况，以及这如何促进了实施基因组规模的方法，从而提供了强大的机制推断，并揭示了新的转化利用策略。
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