i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Universidade do Porto, Porto, Portugal.
Nat Rev Genet. 2021 May;22(5):284-306. doi: 10.1038/s41576-020-00306-8. Epub 2021 Jan 11.
The deep evolutionary history of African populations, since the emergence of modern humans more than 300,000 years ago, has resulted in high genetic diversity and considerable population structure. Selected genetic variants have increased in frequency due to environmental adaptation, but recent exposures to novel pathogens and changes in lifestyle render some of them with properties leading to present health liabilities. The unique discoverability potential from African genomic studies promises invaluable contributions to understanding the genomic and molecular basis of health and disease. Globally, African populations are understudied, and precision medicine approaches are largely based on data from European and Asian-ancestry populations, which limits the transferability of findings to the continent of Africa. Africa needs innovative precision medicine solutions based on African data that use knowledge and implementation strategies aligned to its climatic, cultural, economic and genomic diversity.
非洲人群的深层进化历史可以追溯到 30 多万年前现代人类的出现,这导致了其具有高度的遗传多样性和显著的群体结构。由于环境适应,一些遗传变异已经增加了频率,但最近接触到的新型病原体和生活方式的改变使其中一些具有导致当前健康负担的特性。非洲基因组研究的独特发现潜力有望为理解健康和疾病的基因组和分子基础做出宝贵的贡献。在全球范围内,非洲人群的研究较少,而精准医学方法主要基于欧洲和亚洲血统人群的数据,这限制了研究结果在非洲大陆的可转移性。非洲需要基于非洲数据的创新精准医疗解决方案,这些解决方案利用与非洲的气候、文化、经济和基因组多样性相匹配的知识和实施策略。