Genetic_studies_of_African_populations_a.pdf - Hum Genet(2008 123:557\u2013598 DOI 10.1007\/s00439-008-0511-y R EV IE W Genetic studies of African

Genetic_studies_of_African_populations_a.pdf - Hum...

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Hum Genet (2008) 123:557–598DOI 10.1007/s00439-008-0511-y123REVIEWGenetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeuticsGiorgio Sirugo · Branwen J. Hennig · Adebowale A. Adeyemo · Alice Matimba · Melanie J. Newport · Muntaser E. Ibrahim · Kelli K. Ryckman · Alessandra Tacconelli · Renato Mariani-Costantini · Giuseppe Novelli · Himla Soodyall · Charles N. Rotimi · Raj S. Ramesar · Sarah A. TishkoV· Scott M. Williams Received: 8 February 2008 / Accepted: 7 May 2008 / Published online: 30 May 2008©Springer-Verlag 2008AbstractAfrica is the ultimate source of modern humansand as such harbors more genetic variation than any othercontinent. For this reason, studies of the patterns of geneticvariation in African populations are crucial to understand-ing how genes aVect phenotypic variation, including dis-ease predisposition. In addition, the patterns of extantgenetic variation in Africa are important for understandinghow genetic variation aVects infectious diseases that are amajor problem in Africa, such as malaria, tuberculosis,schistosomiasis, and HIV/AIDS. Therefore, elucidating therole that genetic susceptibility to infectious diseases playsis critical to improving the health of people in Africa. It isalso of note that recent and ongoing social and culturalchanges in sub-Saharan Africa have increased the preva-lence of non-communicable diseases that will also requiregenetic analyses to improve disease prevention and treat-ment. In this review we give special attention to many ofthe past and ongoing studies, emphasizing those in Sub-Saharan Africans that address the role of genetic variationin human disease.Electronic supplementary materialThe online version of this article (doi:10.1007/s00439-008-0511-y) contains supplementary material, which is available to authorized users.G. Sirugo (&)Medical Research Council Laboratories, Fajara, The Gambia, West Africae-mail: [email protected]; [email protected]G. Sirugo · A. Tacconelli · G. NovelliMedical Genetics Unit, Ospedale S. Pietro FBF, Rome, ItalyG. Sirugo · A. Tacconelli · G. NovelliDepartment of Biopathology and Diagnostic Imaging, School of Medicine, Tor Vergata University, Rome, ItalyB. J. HennigLondon School of Hygiene and Tropical Medicine, London, UKA. A. Adeyemo · C. N. RotimiNational Human Genome Center, Howard University, College of Medicine, Washington, DC, USAA. MatimbaMolecular Science Unit, (AiBST), Harare, ZimbabweM. J. NewportDepartment of Medicine, Brighton and Sussex Medical School, University of Sussex, Brighton, UKM. E. IbrahimDepartment of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, SudanK. K. Ryckman · S. M. Williams (&)Center for Human Genetic Research, Vanderbilt University School of Medicine, Nashville, TN, USAe-mail: [email protected]R. Mariani-CostantiniDepartment of Oncology and Neuroscience and Ageing Research Center, University Gabriele d’Annunzio, Chieti, ItalyH. SoodyallHuman Genomic Diversity and Disease Research Unit,

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