Department of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Department of Medicine, University of Cambridge, Cambridge, UK.
Nat Rev Genet. 2019 Sep;20(9):520-535. doi: 10.1038/s41576-019-0144-0. Epub 2019 Jun 24.
Risk of disease is multifactorial and can be shaped by socio-economic, demographic, cultural, environmental and genetic factors. Our understanding of the genetic determinants of disease risk has greatly advanced with the advent of genome-wide association studies (GWAS), which detect associations between genetic variants and complex traits or diseases by comparing populations of cases and controls. However, much of this discovery has occurred through GWAS of individuals of European ancestry, with limited representation of other populations, including from Africa, The Americas, Asia and Oceania. Population demography, genetic drift and adaptation to environments over thousands of years have led globally to the diversification of populations. This global genomic diversity can provide new opportunities for discovery and translation into therapies, as well as a better understanding of population disease risk. Large-scale multi-ethnic and representative biobanks and population health resources provide unprecedented opportunities to understand the genetic determinants of disease on a global scale.
疾病风险是多因素的，可以受到社会经济、人口统计学、文化、环境和遗传因素的影响。随着全基因组关联研究（GWAS）的出现，我们对疾病风险的遗传决定因素的理解有了很大的提高。GWAS 通过比较病例和对照组的人群，检测遗传变异与复杂特征或疾病之间的关联。然而，这些发现大多是通过对欧洲血统个体的 GWAS 得出的，其他人群的代表性有限，包括非洲、美洲、亚洲和大洋洲。几千年来的人口统计学、遗传漂变和对环境的适应导致了全球人口的多样化。这种全球基因组多样性可以为发现和转化为治疗方法提供新的机会，并更好地了解人群的疾病风险。大规模的多民族和代表性生物库和人口健康资源为在全球范围内了解疾病的遗传决定因素提供了前所未有的机会。
