Kelly Derek E, Hansen Matthew E B, Tishkoff Sarah A
Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Genomics and Computational Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.
Curr Opin Syst Biol. 2017 Feb;1:102-108. doi: 10.1016/j.coisb.2016.12.018. Epub 2017 Mar 3.
The genomics era has accelerated our understanding of how genetic and epigenetic factors influence both normal variable traits and disease risk in humans. However, the majority of "omics" studies have focused on individuals living in urban centers, primarily from Europe and Asia, neglecting much of the genetic and environmental variation that exists across worldwide populations. Comparative studies of gene regulation in ethnically diverse populations are informing our understanding of how evolutionary forces have shaped the genetic and molecular mechanisms underlying complex traits, and studying gene expression in different environmental contexts is enabling the dissection of disease-related pathways such as immune response. Such approaches are vital to the equitable application of genomics and medicine.
基因组学时代加快了我们对于遗传和表观遗传因素如何影响人类正常可变性状及疾病风险的理解。然而,大多数“组学”研究聚焦于生活在城市中心的个体,主要来自欧洲和亚洲,而忽略了全球人群中存在的大量遗传和环境变异。对不同种族人群基因调控的比较研究,正在增进我们对于进化力量如何塑造复杂性状背后的遗传和分子机制的理解,并且在不同环境背景下研究基因表达,能够剖析诸如免疫反应等与疾病相关的途径。此类方法对于基因组学和医学的公平应用至关重要。