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Hereditas. 2018 Apr 6;155:19. doi: 10.1186/s41065-018-0057-5. eCollection 2018.

Genetic structure, divergence and admixture of Han Chinese, Japanese and Korean populations.

Wang Y1,2, Lu D1,2, Chung YJ3, Xu S1,2,4,5,6.

Author information

1Chinese Academy of Sciences (CAS) Key Laboratory of Computational Biology, Max Planck Independent Research Group on Population Genomics, CAS-MPG Partner Institute for Computational Biology (PICB), Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, 200031 China.
2University of Chinese Academy of Sciences, Beijing, 100049 China.
3Integrated Research Center for Genome Polymorphism, Department of Microbiology, The Catholic University Medical College, Seoul, Socho-gu 137-701 South Korea.
4School of Life Science and Technology ShanghaiTech University, Shanghai, 201210 China.
5Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, 650223 China.
Collaborative Innovation Center of Genetics and Development, Shanghai, 200438 China.



Han Chinese, Japanese and Korean, the three major ethnic groups of East Asia, share many similarities in appearance, language and culture etc., but their genetic relationships, divergence times and subsequent genetic exchanges have not been well studied.


We conducted a genome-wide study and evaluated the population structure of 182 Han Chinese, 90 Japanese and 100 Korean individuals, together with the data of 630 individuals representing 8 populations wordwide. Our analyses revealed that Han Chinese, Japanese and Korean populations have distinct genetic makeup and can be well distinguished based on either the genome wide data or a panel of ancestry informative markers (AIMs). Their genetic structure corresponds well to their geographical distributions, indicating geographical isolation played a critical role in driving population differentiation in East Asia. The most recent common ancestor of the three populations was dated back to 3000 ~ 3600 years ago. Our analyses also revealed substantial admixture within the three populations which occurred subsequent to initial splits, and distinct gene introgression from surrounding populations, of which northern ancestral component is dominant.


These estimations and findings facilitate to understanding population history and mechanism of human genetic diversity in East Asia, and have implications for both evolutionary and medical studies.


Admixture; Genetic ancestry; Han Chinese; Japanese; Korean; Population divergence; Population structure; SNP

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Conflict of interest statement

All samples were collected with informed consent and approved by the Biomedical Research Ethics Committee of Shanghai Institutes for Biological Sciences. Prior to genotyping and analysis, all samples were stripped of personal identifiers (if any existed). All procedures were in accordance with the ethical standards of the Responsible Committee on Human Experimentation (approved by the Biomedical Research Ethics Committee of Shanghai Institutes for Biological Sciences, No. ER-SIBS-261408) and the Helsinki Declaration of 1975, as revised in 2000.Not applicable.All authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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