Sirugo Giorgio, Hennig Branwen J, Adeyemo Adebowale A, Matimba Alice, Newport Melanie J, Ibrahim Muntaser E, Ryckman Kelli K, Tacconelli Alessandra, Mariani-Costantini Renato, Novelli Giuseppe, Soodyall Himla, Rotimi Charles N, Ramesar Raj S, Tishkoff Sarah A, Williams Scott M
Medical Research Council Laboratories, Fajara, The Gambia, West Africa.
Hum Genet. 2008 Jul;123(6):557-98. doi: 10.1007/s00439-008-0511-y. Epub 2008 May 30.
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.
非洲是现代人类的最终发源地，因此拥有比其他任何大陆都更多的基因变异。出于这个原因，对非洲人群基因变异模式的研究对于理解基因如何影响表型变异（包括疾病易感性）至关重要。此外，非洲现存的基因变异模式对于理解基因变异如何影响在非洲是主要问题的传染病（如疟疾、结核病、血吸虫病和艾滋病毒/艾滋病）也很重要。因此，阐明传染病遗传易感性所起的作用对于改善非洲人民的健康至关重要。还值得注意的是，撒哈拉以南非洲近期和正在发生的社会文化变化增加了非传染性疾病的患病率，这也需要进行基因分析以改善疾病的预防和治疗。在这篇综述中，我们特别关注许多过去和正在进行的研究，重点是撒哈拉以南非洲人针对基因变异在人类疾病中的作用所开展的研究。
