Abstract
BackgroundHan 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.ResultsWe 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.ConclusionsThese 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.
Highlights
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
Population structure and genetic relationship Genetic difference measured by FST To assess the genetic relationship among East Asian groups, we examined genome-wide single nucleotide polymorphism (SNP) data in 1032 individuals representing 12 populations
The three smallest FST values are between north Han Chinese (CHB) and south Han Chinese (CHS) (FST[North Han Chinese (CHB)-CHS] = 0.0014), between Chinese Dai in Xishuangbanna (CDX) and Kinh in Ho Chi Minh City of Vietnam (KHV) (FST[CDX-KHV] = 0.0024), and between CHB and Korean (KOR) (FST[CHB-KOR] = 0.0026)
Summary
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. East Asian peoples, especially the three major ethnicities, Han Chinese, Japanese and Korean, share many similarities in characteristics, for example, yellow skin, black eyes and black hair, short and flat noses, which make them hard to be distinguished by appearance. While many studies have reported the overall picture of genetic structure of global populations, finer scale details of population structure and relevant issues in East Asia have not yet been well addressed. A recent study [5] provided a landscape of autosomal variation and an overall picture of the genetic relationship of Asian populations. Fine scale genetic structure and relationship among Han Chinese, Japanese and
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