Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Behavior, University of California, Los Angeles, Los Angeles, CA, USA.
Nat Genet. 2018 Oct;50(10):1426-1434. doi: 10.1038/s41588-018-0215-8. Epub 2018 Sep 17.
The population of the Mediterranean island of Sardinia has made important contributions to genome-wide association studies of complex disease traits and, based on ancient DNA studies of mainland Europe, Sardinia is hypothesized to be a unique refuge for early Neolithic ancestry. To provide new insights on the genetic history of this flagship population, we analyzed 3,514 whole-genome sequenced individuals from Sardinia. Sardinian samples show elevated levels of shared ancestry with Basque individuals, especially samples from the more historically isolated regions of Sardinia. Our analysis also uniquely illuminates how levels of genetic similarity with mainland ancient DNA samples varies subtly across the island. Together, our results indicate that within-island substructure and sex-biased processes have substantially impacted the genetic history of Sardinia. These results give new insight into the demography of ancestral Sardinians and help further the understanding of sharing of disease risk alleles between Sardinia and mainland populations.
地中海撒丁岛的居民为复杂疾病特征的全基因组关联研究做出了重要贡献，并且基于对欧洲大陆古代 DNA 的研究，撒丁岛被假设为新石器时代早期祖先的独特避难所。为了提供对这一旗舰人群遗传历史的新见解，我们分析了来自撒丁岛的 3514 名全基因组测序个体。撒丁岛样本与巴斯克个体具有更高水平的共同祖先，尤其是来自撒丁岛历史上更为孤立的地区的样本。我们的分析还独特地揭示了与岛内古代 DNA 样本的遗传相似性水平如何在整个岛屿上微妙地变化。总的来说，我们的研究结果表明，岛内的亚结构和性别偏向过程对撒丁岛的遗传历史产生了重大影响。这些结果为了解古代撒丁岛人的人口统计学提供了新的见解，并有助于进一步理解撒丁岛和大陆人群之间疾病风险等位基因的共享。
