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Dissecting the genetic structure of Korean population using genome-wide SNP arrays
Authors:Young Jin Kim  Han Jun Jin
Institution:1. Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Chungcheongbuk-do, Republic of Korea
2. Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul, 151-742, Republic of Korea
3. Department of Nanobiomedical Science, Dankook University, Cheonan, 330-714, Republic of Korea
Abstract:Genome-wide SNP arrays have generated unprecedented quantities of data allow the detection of human evolutionary history and dense genome-wide data also enable the identification of distance ancestry among individuals or ethnic groups. To explain wider aspects of the genetic structure of Koreans and the East Asian population, we analyzed 79 individuals from the Korean HapMap project at 555,352 common single-nucleotide polymorphism loci, and compared this data with the worldwide population groups with the 53 ethnic groups from Human Genome Diversity Panel (HGDP-CEPH). Population differentiation (FST), Principal Component Analyses, STRUCTURE and ADMIXTURE are examined. In general, all the individual samples studies here were classified into subset of ethnic groups according to their geographical origins. Korean HapMap individuals were grouped together with East Asian populations from HGDP panel. Recently, a sub-population structure within Korean population has been reported. Our result, however, revealed the genetic homogeneity of Korean population. The ADMIXTURE analysis showed that, overall the Korean populations derive 79 % of their genomic ancestry from southern Asia and have relatively little northern Asian ancestry (21 %). The present work, therefore, provide the evidence that the male-biased southern-to-northern migration influenced not only for the genetic make up of the Y chromosome in the Korean population but also, its autosomal composition.
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