Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.
Single nucleotide polymorphisms (SNPs) are considered as very promising genetic markers for complex disease gene hunting. However, it has been demonstrated that there are significant ethnic differences in genetic variations. In order to investigate the genetic variations in the Korean population and their ethnic differences, a large number of SNPs of 161 disease candidate genes were collected from a publicly available SNP database and then tested for the distribution of allele frequency in the Korean population. Of all 458 SNPs tested, approximately 43.9% were polymorphic in the Korean population, whereas 44.5% were monomorphic. The remaining 11.6% were failed in the test. Significant differences have been observed when SNP allele frequency pattern of Koreans was compared with those of Caucasians and Africans, whereas this pattern was highly similar between Korean and Japanese populations. Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies.
Lee
Jong-Keuk
JK
National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
Kim
Hung-Tae
HT
National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
Cho
Sung-Mi
SM
National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
Kim
Kyung-Hee
KH
National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
Jin
Hee-Jeong
HJ
National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
Ryu
Gil-Mi
GM
National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
Oh
Bermseok
B
National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
Park
Chan
C
National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
Kimm
Kuchan
K
National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
Jo
Sangmee Ahn
SA
Department of Biomedical Sciences, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
Jung
Sung-Chul
SC
Department of Biomedical Sciences, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
Kim
Sook
S
DNA Link, Inc., 15-1 Yeonhee-dong, Seodaemun-gu, Seoul 120-110, Korea.
In
Sun Mi
SM
DNA Link, Inc., 15-1 Yeonhee-dong, Seodaemun-gu, Seoul 120-110, Korea.
Lee
Jong-Eun
JE
DNA Link, Inc., 15-1 Yeonhee-dong, Seodaemun-gu, Seoul 120-110, Korea.
Jo
Inho
I
Department of Biomedical Sciences, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea. inhojo@nih.go.kr.
D000328:Adult; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D030541:Databases, Genetic; D005260:Female; D005787:Gene Frequency; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007723:Korea; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044465:White People / Q000235:genetics
D005819:Genetic Markers