Institut de Biologia Evolutiva, Consejo Superior de Investigaciones Científicas-Universitat Pompeu Fabra, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain.
Proc Natl Acad Sci U S A. 2013 Jul 16;110(29):11791-6. doi: 10.1073/pnas.1306223110. Epub 2013 Jun 3.
Human genetic diversity in southern Europe is higher than in other regions of the continent. This difference has been attributed to postglacial expansions, the demic diffusion of agriculture from the Near East, and gene flow from Africa. Using SNP data from 2,099 individuals in 43 populations, we show that estimates of recent shared ancestry between Europe and Africa are substantially increased when gene flow from North Africans, rather than Sub-Saharan Africans, is considered. The gradient of North African ancestry accounts for previous observations of low levels of sharing with Sub-Saharan Africa and is independent of recent gene flow from the Near East. The source of genetic diversity in southern Europe has important biomedical implications; we find that most disease risk alleles from genome-wide association studies follow expected patterns of divergence between Europe and North Africa, with the principal exception of multiple sclerosis.
南欧的人类遗传多样性高于欧洲其他地区。这种差异归因于冰川期后的扩张、近东农业的传播以及来自非洲的基因流动。通过对来自 43 个群体的 2099 个人的 SNP 数据进行分析，我们发现，当考虑来自北非而不是撒哈拉以南非洲的基因流动时，欧洲和非洲之间最近的共同祖先的估计值大大增加。北非祖先的梯度解释了先前观察到的与撒哈拉以南非洲共享程度低的现象，并且与来自近东的近期基因流动无关。南欧遗传多样性的来源具有重要的生物医学意义；我们发现，来自全基因组关联研究的大多数疾病风险等位基因与欧洲和北非之间的预期分化模式一致，多发性硬化症是主要的例外。
