Department of Anthropology, Laboratory of Anthropology, Genetics and Peopling History, University of Geneva, Switzerland.
Am J Phys Anthropol. 2011 May;145(1):81-96. doi: 10.1002/ajpa.21470. Epub 2011 Jan 4.
The peopling of East Asia by the first modern humans is strongly debated from a genetic point of view. A north-south genetic differentiation observed in this geographic area suggests different hypotheses on the origin of Northern East Asian (NEA) and Southern East Asian (SEA) populations. In this study, the highly polymorphic HLA markers were used to investigate East Asian genetic diversity. Our database covers a total of about 127,000 individuals belonging to 84 distinct Asian populations tested for HLA-A, -B, -C, -DPB1, and/or -DRB1 alleles. Many Chinese populations are represented, which have been sampled in the last 30 years but rarely taken into account in international research due to their data published in Chinese. By using different statistical methods, we found a significant correlation between genetics and geography and relevant genetic clines in East Asia. Additionally, HLA alleles appear to be unevenly distributed: some alleles observed in NEA populations are widespread at the global level, while some alleles observed in SEA populations are virtually unique in Asia. The HLA genetic variation in East Asia is also characterized by a decrease of diversity from north to south, although a reverse pattern appears when one only focuses on alleles restricted to Asia. These results reflect a more complex migration history than that illustrated by the "southern-origin" hypothesis, as genetic contribution of ancient human migrations through a northern route has probably been quite substantial. We thus suggest a new overlapping model where northward and southward opposite migrations occurring at different periods overlapped.
东亚地区的第一批现代人是如何迁徙而来的，这一问题在遗传学角度上存在较大争议。这一地理区域中存在的南北遗传分化表明，对于东亚北部（NEA）和东亚南部（SEA）人群的起源存在不同的假说。在这项研究中，我们使用高度多态性的 HLA 标记物来研究东亚的遗传多样性。我们的数据库共涵盖了约 127000 名个体，他们来自 84 个不同的亚洲群体，这些群体的 HLA-A、-B、-C、-DPB1 和/或-DRB1 等位基因都经过了测试。数据库中还包含了许多中国群体，这些群体在过去 30 年中被采样，但由于其数据以中文形式发表，很少被国际研究考虑在内。通过使用不同的统计方法，我们发现东亚的遗传与地理之间存在显著的相关性，并存在相关的遗传梯度。此外，HLA 等位基因的分布似乎不均匀：一些在 NEA 群体中观察到的等位基因在全球范围内广泛存在，而一些在 SEA 群体中观察到的等位基因在亚洲实际上是独一无二的。东亚的 HLA 遗传变异还表现出从北到南多样性逐渐减少的特征，尽管当仅关注局限于亚洲的等位基因时，会出现相反的模式。这些结果反映了一个比“南方起源”假说所描绘的更为复杂的迁徙历史，因为通过北部路线进行的古代人类迁徙的遗传贡献可能相当大。因此，我们提出了一个新的重叠模型，其中南北方向相反的迁徙在不同时期发生重叠。
