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High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: a genetic perspective on the peopling of Korea

Soon-Hee Kim12, Ki-Cheol Kim3, Dong-Jik Shin4, Han-Jun Jin5, Kyoung-Don Kwak6, Myun-Soo Han6, Joon-Myong Song7, Won Kim1 and Wook Kim3*

Author Affiliations

1 School of Biological Sciences, Seoul National University, Seoul 151-747, Korea

2 Eastern District Office, National Forensic Service, Gangwon-do 220-805, Korea

3 Department of Biological Sciences, Dankook University, Cheonan 330-714, Korea

4 Cardiovascular Genome Center, Yonsei University College of Medicine, Seoul 120-749, Korea

5 Center for Genome Science, Korea National Institute of Health, Seoul 122-701, Korea

6 DNA Analysis Division, National Forensic Service, Seoul 158-707, Korea

7 Research Institute of Pharmaceutical Sciences and College of Pharmacy, Seoul National University, Seoul 151-742, Korea

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Investigative Genetics 2011, 2:10  doi:10.1186/2041-2223-2-10

Published: 4 April 2011



Koreans are generally considered a Northeast Asian group, thought to be related to Altaic-language-speaking populations. However, recent findings have indicated that the peopling of Korea might have been more complex, involving dual origins from both southern and northern parts of East Asia. To understand the male lineage history of Korea, more data from informative genetic markers from Korea and its surrounding regions are necessary. In this study, 25 Y-chromosome single nucleotide polymorphism markers and 17 Y-chromosome short tandem repeat (Y-STR) loci were genotyped in 1,108 males from several populations in East Asia.


In general, we found East Asian populations to be characterized by male haplogroup homogeneity, showing major Y-chromosomal expansions of haplogroup O-M175 lineages. Interestingly, a high frequency (31.4%) of haplogroup O2b-SRY465 (and its sublineage) is characteristic of male Koreans, whereas the haplogroup distribution elsewhere in East Asian populations is patchy. The ages of the haplogroup O2b-SRY465 lineages (~9,900 years) and the pattern of variation within the lineages suggested an ancient origin in a nearby part of northeastern Asia, followed by an expansion in the vicinity of the Korean Peninsula. In addition, the coalescence time (~4,400 years) for the age of haplogroup O2b1-47z, and its Y-STR diversity, suggest that this lineage probably originated in Korea. Further studies with sufficiently large sample sizes to cover the vast East Asian region and using genomewide genotyping should provide further insights.


These findings are consistent with linguistic, archaeological and historical evidence, which suggest that the direct ancestors of Koreans were proto-Koreans who inhabited the northeastern region of China and the Korean Peninsula during the Neolithic (8,000-1,000 BC) and Bronze (1,500-400 BC) Ages.