title: Population structure and infectious disease risk in southern Africa.
abstract: 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.
authors.affiliation: 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.
authors.forename: Caitlin
authors.initials: C
authors.lastname: Uren
authors.affiliation: 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.
authors.forename: Marlo
authors.initials: M
authors.lastname: Möller
authors.affiliation: 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.
authors.forename: Paul D
authors.initials: PD
authors.lastname: van Helden
authors.affiliation: Department of Ecology and Evolution, Stony Brook University, Stony Brook, NY, 11794, USA.
authors.forename: Brenna M
authors.initials: BM
authors.lastname: Henn
authors.affiliation: 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. egvh@sun.ac.za.
authors.forename: Eileen G
authors.initials: EG
authors.lastname: Hoal
mesh_terms: D000353:Africa, Southern; D041322:Chromosomes, Human, Y / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D005006:Ethnicity / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D005828:Genetics, Population; D006801:Humans; D044465:White People / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial
keywords: Disease susceptibility; Population structure; Southern Africa