High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: a genetic perspective on the peopling of Korea // Investigative Genetics 2011, 2:10 doi:10.1186/2041-2223-2-10
Kim et al.
Background: 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.
Results: 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.
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