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Basic Science Journal of Dankook University

Vol.19 December 2013,

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0!FST!0.05: not significantly differentiated; FST"0.25: significantly differentiated; FST=1:completelyisolated(WrightS,1978)

1

Chromosome; 2

SNPs fo rwhich p values less than 10-3

are listed; 3

p values for the Cochran-Armitage trend test of genotype

frequencies; 4

notavailable

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!"#$

[1] Cavalli-Sforza LL, Menozzi P and Piazza A (1994)

The history and genography of human genes.

Princeton University Press, Princeton.

[2] Chen J, Zheng H, Bei JX, Sun L, Jia WH, Li T,

Zhang F, Seielstad M, Zeng YX, Zhang X and Liu

J (2009) Genetic structure of the Han Chinese

population revealed by genome-wideSNP variation.

Am. J. Hum. Genet. 85: 775-785.

[3] Excoffier L. and Lischer HE (2010) Arlequin suite

ver 3.5: A new series of programs to perform

population genetics analyses under Linux and

Windows. Mol. Ecol. Resour. 10: 564-567.

[4] Friedlaender JS, Friedlaender FR, Reed FA, Kidd

KK, Kidd JR, Chambers GK, Lea RA, Loo JH,

Koki G, Hodgson JA, et al. (2008) The genetic

structure of Pacific Islanders. PLoS Genet. 4: e19.

[5] Han MS, Hong SB, Choi SK, Cho YH, Jin HJ,

Kwak KD and Kim W (2002) Population Genetic

Data on the Thirteen CODIS Short Tandem Repeat

Loci in Koreans Korean J. Genet. 24: 83-87.

[6] Hong SS, Suh JA, Chae JJ, Goh SH, Kim YS, Kim

UK, Namkoong Y and Lee CC (1993) Frequency

distribution of alleles at D1S80 and apo-B 3'

VNTR loci in Korean populations. Mol. Cell. 3:

457-453.

[7] Jakkula E, Rehnström K, Varilo T, Pietiläinen OP,

Paunio T, Pedersen NL, deFaire U, Järvelin MR,

Saharinen J, Freimer N, et al. (2008) The genome-

wide patterns of variation expose significant

substructure in a founder population. Am. J. Hum.

Genet. 83: 787-794.

[8] Jin HJ, Kwak KD, Hammer MF, Nakahori Y,

Shinka T, Lee JW, Jin F, Jia X, Tyler-Smith C and

Kim W (2003) Y-chromosomal DNA haplogroups

and their implications for the dual origins of the

Koreans. Hum. Genet. 114: 27-35.

[9] Jin HJ, Kwak KD, Hong SB, Shin DJ, Han MS,

Tyler-Smith C and Kim W (2006) Forensic genetic

analysis of mitochondrial DNA hypervariable region

I/IIsequences: an expanded Korean population

database. Forensic Sci. Int. 158: 125-130.

[10] Jin HJ, Tyler-Smith C and Kim W (2009) The

peopling of Korea revealed by analyses of

mitochondrial DNA and Y-chromosomal markers.

PLoS One. 4: e4210.

[11] Jin HJ, Kim KC and Kim W (2010) Genetic

diversity of two haploid markers in the Udegey

population from southeastern Siberia. Am. J. Phys.

Anthropol. 142: 303-313.

[12] Jung J, Kang H, Cho YS, Oh JH, Ryu MH, Chung

HW, Seo JS, Lee JE, Oh B, Bhak J et al (2010)

Gene flow between the Korean peninsula and its

neighboring countries. PLoS ONE 5: e11855.

[13] Karafet T, Xu L, Du R, Wang W, Feng S, Wells

RS, Redd AJ, Zegura SL and Hammer MF (2001)

Paternal population history of East Asia: sources,

patterns, and microevolutionary processes. Am. J.

Hum. Genet. 69: 615-628.

[14] Kim YJ and Jin HJ (2012) Dissecting the genetic

structure of Korean population using genome-wide

SNP arrays. Genes Genom. 35: 355-363.

[15] Kim W, Shin DJ, Harihara S and Kim YJ (2000)

Y chromosomal DNA variation in east Asian

populations and its potential for inferring the

peopling of Korea. J. Hum. Genet. 45: 76-83.

[16] Liu XG, Tan LJ, Lei SF, Liu YJ, Shen H, Wang

L, Yan H, Guo YF, Xiong DH, Chen XD, et al.

(2009) Genome-wide association and replication

studies identified TRHR as an important gene for

lean body mass. Am. J. Hum. Genet. 84: 418-23.

[17] Nei M and Roychoudhury AK (1993) Evolutionary

relationships of human populations on a global

scale. Mol. Biol. Evol. 10: 927-943.

[18] Price AL, Patterson NJ, Plenge RM, Weinblatt

ME, Shadick NA and Reich D (2006) Principal

components analysis corrects for stratification in

genome-wide association studies. Nat. Genet. 38:

904-909.

[19] Saha N and Tay JS (1992) Origin of the Koreans:

a population genetic study. Am. J. Phys. Anthropol.

88: 27-36.

[20] The International HapMap Consortium (2005) The

International HapMap Project. Nature 426: 789-796.

[21] The International HapMap Consortium (2007) A

haplotype map of the human genome. Nature 437:

1299-1320.

!"#$%&'()*+',-.*/0(*-1

Study of genome-wide SNPs, mitochondrial DNA and Y-chromosomal DNA variation can provide a valuable

information about the population structure and peopling of human populations. To explain a genetic

homogeneity of Koreans and population structure of Koreans and the East Asian populations, we analyzed

153 individuals from the Korea and 77 individuals from the East Asia at 46,559 common single-nucleotide

polymorphic loci. The 137 CHB and 113 JPT individuals at 25,769 common SNPs from the International

HapMap project were further analyzed to reveal the population structure of the East Asians. Principal

Component analyses (PCA) and population differentiation ( ) are examined. In the PCA test, the Jeju

individuals were slightly different from other Koreans but their values were not significant. This reflect

the genetic homogeneity of Korea population. In general, all the individual samples studied here were

clustered into subset of ethnic origin according to their geographical location except Mongolians. Whole

genome sequencing of Koreans and other population genome by next generation sequencing technology will

provide great opportunity to understand the population expansion and peopling of Korea better.

[22] Wellcome Trust Case Control Consortium (2007)

Genome-wide association study of 14,000 cases

of seven common diseases and 3,000 shared

controls. Nature 447: 661-678.

[23] Wright S (1978) Evolution and the genetics of

Population. Vol. 4. Variability Within and Among

Natural Population. Univ. of Chicago Press, Chicago

[24] Tian C, Kosoy R, Lee A, Ransom M, Belmont

JW, Gregersen PK and Seldin MF (2008) Analysis

of East Asia genetic substructure using genome-

wide SNP arrays. PLoS One. 3: e3862

[25] Turner CG (1990) Major features of Sundadonty

and Sinodonty, including suggestions about East

Asian microevolution, population history, and late

Pleistocene relationships with Australian aboriginals.

Am. J. Phys. Anthropol. 82: 295-317.

[26] Zhang XJ, Huang W, Yang S, Sun LD, Zhang FY,

Zhu QX, Zhang FR, Zhang C, Du WH, Pu XM,

et al. (2009) Psoriasis genome-wide association

study identifies susceptibility variants within LCE

gene cluster at 1q21. Nat. Genet. 42: 205-210.