Genetic structure, divergence and admixture of Han Chinese, Japanese and Korean populations
Open accessAbstract
BACKGROUND: 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. RESULTS: 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. CONCLUSIONS: 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.
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Genetic clusters in each of the Japanese, Chinese, and South Korean populations are clearly distinct.
“Although Japanese, Chinese, and South Koreans share genetic extensions, genetic clusters in each population are clearly distinct [32].”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [32]
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Genetics of Alzheimer’s disease: An East Asian perspective
Miyashita, A., Kikuchi, M., Hara, N., & Ikeuchi, T. (2023) · Journal of Human Genetics · doi:10.1038/s10038-022-01050-z · Cited by 64 · see citing works
Genetic structure in Louisiana Iris species reveals patterns of recent and historical admixture
Zalmat, A. S., Sotola, V. A., Nice, C. C., & Martin, N. H. (2021) · American Journal of Botany · doi:10.1002/ajb2.1758 · Cited by 8 · see citing works
- Authors
- Wang, Y., Lu, D., Chung, Y.-J., & Xu, S.
- Affiliations
- Chinese Academy of Sciences (CN)
- Catholic University of Korea (KR)
- Corresponding author
- Xu, Shuhua
- Venue
- Hereditas
- Published
- 2018-04-06
- Volume
- 155
- Issue
- 1
- Pages
- 19-19
- ISSN
- 0018-0661 (ISSN-L)
- 1601-5223
- PMC
- PMC5889524
- OpenAlex
- W2802881564
- Cited by
- 106
- References
- 2
- Citations by year
- 2026: 6 · 2025: 9 · 2024: 11 · 2023: 13 · 2022: 23 · 2021: 14 · 2020: 16 · 2019: 10 · 2018: 4
- FWCI
- 6.64
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Hereditas (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- National Natural Science Foundation of China (91731303, 31771388, 31711530221)
- National Science Fund for Distinguish Young Scholars (31525014)
- Key Research Program of Frontier Sciences of the Chinese Academy of Sciences (QYZDJ-SSW-SYS009)
- Strategic Priority Research Program (XDB13040100)
- Program of Shanghai Academic Research Leader (16XD1404700)
- National Key Research and Development Program (2016YFC0906403)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Keywords
- Han Chinese, Japanese, Korean language, population divergence, admixture, gene flow, ancestry informative markers, demographic history, genetic diversity, geographic isolation, introgression
- MeSH terms
- China, Genetics, Population, Humans, Japan, Phylogeny, Population Density, Genome, Human, Polymorphism, Single Nucleotide, Asian People, Gene Flow, Republic of Korea, Genotyping Techniques
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