Characterization of publicly available SNPs in the Korean population



Single-nucleotide polymorphisms (SNPs) are the most abundant form of genetic variations and have a great potential for mapping studies of complex genetic traits. Currently a great deal of effort is invested in the identification of SNPs, and a large volume of data is already available through public databases (NCBI, NCI, WICGR, HGBASE). For an association mapping study, SNP allele frequencies in the population are critical. As an initial step toward construction of an SNP database of the Korean population, we have determined the allele frequencies of 300 cSNPs selected from the public database in 24 individuals. Among the tested markers, approximately 23% did not show polymorphism in the population. The results suggest that the ethnic and population based differences should be considered in the selection of SNPs for the study of complex diseases with association mapping methods. Hum Mutat 17:281–284, 2001. © 2001 Wiley-Liss, Inc.