Uren Caitlin, Möller Marlo, van Helden Paul D, Henn Brenna M, Hoal Eileen G
SA MRC Centre for TB Research, DST/NRF Centre of Excellence for Biomedical Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medical and Health Sciences, Stellenbosch University, Tygerberg, Parow, 7500, South Africa.
Department of Ecology and Evolution, Stony Brook University, Stony Brook, NY, 11794, USA.
Mol Genet Genomics. 2017 Jun;292(3):499-509. doi: 10.1007/s00438-017-1296-2. Epub 2017 Feb 22.
The KhoeSan populations are the earliest known indigenous inhabitants of southern Africa. The relatively recent expansion of Bantu-speaking agropastoralists, as well as European colonial settlement along the south-west coast, dramatically changed patterns of genetic diversity in a region which had been largely isolated for thousands of years. Owing to this unique history, population structure in southern Africa reflects both the underlying KhoeSan genetic diversity as well as differential recent admixture. This population structure has a wide range of biomedical and sociocultural implications; such as changes in disease risk profiles. Here, we consolidate information from various population genetic studies that characterize admixture patterns in southern Africa with an aim to better understand differences in adverse disease phenotypes observed among groups. Our review confirms that ancestry has a direct impact on an individual's immune response to infectious diseases. In addition, we emphasize the importance of collaborative research, especially for populations in southern Africa that have a high incidence of potentially fatal infectious diseases such as HIV and tuberculosis.
科伊桑人群是已知最早居住在南部非洲的原住民。相对较近时期讲班图语的农牧民的扩张，以及欧洲人在西南海岸的殖民定居，极大地改变了一个在数千年里基本处于隔离状态的地区的遗传多样性模式。由于这一独特历史，南部非洲的人口结构既反映了科伊桑人潜在的遗传多样性，也反映了近期不同的混合情况。这种人口结构具有广泛的生物医学和社会文化影响；比如疾病风险状况的变化。在此，我们整合了各种群体遗传学研究的信息，这些研究描绘了南部非洲的混合模式，旨在更好地理解不同群体中观察到的不良疾病表型差异。我们的综述证实，血统对个体针对传染病的免疫反应有直接影响。此外，我们强调合作研究的重要性，特别是对于南部非洲那些潜在致命传染病（如艾滋病毒和结核病）发病率很高的人群。
