基于高密度SNP数据的东亚人群遗传结构研究

目的 东亚疆域辽阔，民族众多，有着广泛多样的语言。中国34个省级行政区可划分为7个地理分区，人群主要分属世界七大语系。已有研究主要集中在东亚人群的起源、迁徙、融合等遗传历史。本文基于5 147份世界人群个体的高密度单核苷酸多态性（SNP）数据，从地域及语言两个角度研究东亚人群尤其是中国人群与世界其他人群的遗传关系，研究中国人群的遗传关系和遗传结构。方法 收集了5 147份世界人群个体的高密度SNP数据，并对其进行质控、合并。通过频率差异分析方法对最终获得的32 789个SNP进行统计学检验，并进一步使用主成分分析、系统发育树、祖先成分分析和D检验统计等方法，对东亚人群与世界其他人群的遗传关系，以及中国人群的遗传关系和遗传结构进行研究。结果 研究发现东亚人群与非洲、美洲和欧洲人群存在显著差异。中国人群可分为7个亚群，不同人群间的遗传聚类与其地理分布、语系语族和族源历史有很强的相关性。结论 本文研究了中国人群与世界人群的遗传关系和差异，并系统研究了中国人群的遗传亚结构。这将丰富东亚人群的群体遗传学、法医遗传学等研究基础，为个体化医疗等工作提供数据支撑。

Genetic Structure of East Asians Based on High-density SNP Data

Objective East Asia harbors a vast territory, with many populations and a diversity of languages. China has 34 provincial-level administrative districts which distributed in seven geographical divisions, mainly populated by seven linguistic family-speaking populations. Previous studies have focused on the genetic history of origin, migration and fusion of East Asia populations. We collected and analyzed high-density SNP data of 5 147 individuals in the world, studied the genetic relationship and structure between East Asia populations, especially Chinese populations and other world populations from the perspective of geography and language.Methods We collected and carried out quality control of high-density SNP data of 5 147 individuals in the world. We studied the genetic structure of Chinese population. The final obtained 32 789 SNPs were statistically tested by allele frequency difference analysis. Meanwhile, we employed principal component analysis, phylogenetic tree, ancestry component analysis and D-test statistics to explore the genetic relationship between East Asia populations and other populations in the world, as well as the genetic relationship and structure of Chinese populations.Results We found that there were significant differences among East Asian, African, American and European. Chinese population can be divided into seven subgroups. The genetic clustering in different populations has a strong correlation with their geographical distribution, linguistic families and ethnic origin history.Conclusion We studied the genetic relationship and differences between Chinese population and world population, and systematically studied the genetic substructure of Chinese population. This will enrich the research foundation of population genetics and forensic genetics of East Asia population and provide data support for individualized medical work.