Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population

Jong Keuk Lee, Hung Tae Kim, Sung Mi Cho, Kyung Hee Kim, Hee Jeong Jin, Gil Mi Ryu, Bermseok Oh, Chan Park, Kuchan Kimm, Sangmee Ahn Jo, Sung Chul Jung, Sook Kim, Sun Mi In, Jong Eun Lee, Inho Jo

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21 Scopus citations


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.

Original languageEnglish
Pages (from-to)213-216
Number of pages4
JournalJournal of Human Genetics
Issue number5
StatePublished - 2003


  • Disease candidate genes
  • Ethnicity
  • Korean
  • Single nucleotide polymorphism
  • SNP


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