Abstract
Africa is the ultimate source of modern humans and as such harbors more genetic variation than any other continent. For this reason, studies of the patterns of genetic variation in African populations are crucial to understanding how genes affect phenotypic variation, including disease predisposition. In addition, the patterns of extant genetic variation in Africa are important for understanding how genetic variation affects infectious diseases that are a major problem in Africa, such as malaria, tuberculosis, schistosomiasis, and HIV/AIDS. Therefore, elucidating the role that genetic susceptibility to infectious diseases plays is critical to improving the health of people in Africa. It is also of note that recent and ongoing social and cultural changes in sub-Saharan Africa have increased the prevalence of non-communicable diseases that will also require genetic analyses to improve disease prevention and treatment. In this review we give special attention to many of the past and ongoing studies, emphasizing those in Sub-Saharan Africans that address the role of genetic variation in human disease.
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Acknowledgments
We thank Drs. Philip Hill, Martin Holland, Gerard Morris, Maarten Schim Van Der Loeff and Christian Wejse for critical reading of the manuscript and Profs. Phillip Tobias and Ian Tattersall for advice. We acknowledge the important role that the African Society of Human Genetics (http://www.AfSHG.org) played in bringing together the group of scientists that contributed to this manuscript. The high sense of purpose displayed during the development of this review is a testament to the wonderful atmosphere created by the AfSHG, from its small inaugural meeting (Accra, Ghana 2003) to the most recent and much larger meeting held in Cairo in November 2007, to facilitate discussions of genetics, genomics and health within the larger context of the cultural experiences of the peoples of Africa.
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An erratum to this article can be found at http://dx.doi.org/10.1007/s00439-008-0534-4
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Sirugo, G., Hennig, B.J., Adeyemo, A.A. et al. Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics. Hum Genet 123, 557–598 (2008). https://doi.org/10.1007/s00439-008-0511-y
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DOI: https://doi.org/10.1007/s00439-008-0511-y