Characterization of publicly available SNPs in the Korean population

Single-nucleotide polymorphisms (SNPs) are the most abundant form of geneti c variations and have a great potential for mapping studies of complex gene tic traits. Currently a great deal of effort is invested in the identificat ion of SNPs, and a large volume of data is already available through public databases (NCBI, NCI, WICGR, HGBASE). For an association mapping study, SN P allele frequencies in the population are critical. As an initial step tow ard construction of an SNP database of the Korean population, we have deter mined the allele frequencies of 300 cSNPs selected from the public database in 24 individuals. Among the tested markers, approximately 23% did not sho w polymorphism in the population. The results suggest that the ethnic and p opulation based differences should be considered in the selection of SNPs f or the study of complex diseases with association mapping methods. Hum Muta t 17:281-284, 2001, (C) 2001 Wiley-Liss, Inc.