title: Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.
abstract: 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.
authors.affiliation: National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
authors.forename: Jong-Keuk
authors.initials: JK
authors.lastname: Lee
authors.affiliation: National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
authors.forename: Hung-Tae
authors.initials: HT
authors.lastname: Kim
authors.affiliation: National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
authors.forename: Sung-Mi
authors.initials: SM
authors.lastname: Cho
authors.affiliation: National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
authors.forename: Kyung-Hee
authors.initials: KH
authors.lastname: Kim
authors.affiliation: National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
authors.forename: Hee-Jeong
authors.initials: HJ
authors.lastname: Jin
authors.affiliation: National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
authors.forename: Gil-Mi
authors.initials: GM
authors.lastname: Ryu
authors.affiliation: National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
authors.forename: Bermseok
authors.initials: B
authors.lastname: Oh
authors.affiliation: National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
authors.forename: Chan
authors.initials: C
authors.lastname: Park
authors.affiliation: National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
authors.forename: Kuchan
authors.initials: K
authors.lastname: Kimm
authors.affiliation: Department of Biomedical Sciences, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
authors.forename: Sangmee Ahn
authors.initials: SA
authors.lastname: Jo
authors.affiliation: Department of Biomedical Sciences, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
authors.forename: Sung-Chul
authors.initials: SC
authors.lastname: Jung
authors.affiliation: DNA Link, Inc., 15-1 Yeonhee-dong, Seodaemun-gu, Seoul 120-110, Korea.
authors.forename: Sook
authors.initials: S
authors.lastname: Kim
authors.affiliation: DNA Link, Inc., 15-1 Yeonhee-dong, Seodaemun-gu, Seoul 120-110, Korea.
authors.forename: Sun Mi
authors.initials: SM
authors.lastname: In
authors.affiliation: DNA Link, Inc., 15-1 Yeonhee-dong, Seodaemun-gu, Seoul 120-110, Korea.
authors.forename: Jong-Eun
authors.initials: JE
authors.lastname: Lee
authors.affiliation: Department of Biomedical Sciences, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea. inhojo@nih.go.kr.
authors.forename: Inho
authors.initials: I
authors.lastname: Jo
mesh_terms: 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
chemical_list: D005819:Genetic Markers