Genomics Inform.  2007 Dec;5(4):152-160.

Characterization of Single Nucleotide Polymorphisms in 55 Disease-Associated Genes in a Korean Population

  • 1Medical Genomics Lab, CHA Research Institute, Pochon CHA University, Seongnam, Gyeonggi 463-836, Korea.;
  • 2Macrogen, Inc., Seoul 153-781, Korea.
  • 3Medipost, Co., Seoul 137-874, Korea.
  • 4Center for Genome Science, NIH, KCDC, Seoul 122-701, Korea.


Most common diseases are caused by multiple genetic and environmental factors. Among the genetic factors, single nucleotide polymorphisms (SNPs) are common DNA sequence variations in individuals and can serve as important genetic markers. Recently, investigations of gene-based and whole genome-based SNPs have been applied to association studies for marker discovery. However, SNPs are so population-specific that the association needs to be verified. Fifty-five genes and 384 SNPs were selected based on association with disease. Genotypes of 337 SNPs in candidate genes were determined using Illumina Sentrix Array Matrix (SAM) chips by an allelespecific extension method in 364 unrelated Korean individuals. Allelic frequencies of SNPs were compared with those of other populations obtained from the International HapMap database. Minor allele frequencies, linkage disequilibrium blocks, tagSNPs, and haplotypes of functional candidate SNPs in 55 genetic disease-associated genes were provided. Our data may provide useful information for the selection of genetic markers for genebased genetic disease-association studies of the Korean population.


disease-associated gene; single nucleotide polymorphism (SNP); haplotype; linkage disequilibrium; Korean

MeSH Terms

Base Sequence
Gene Frequency
Genetic Markers
HapMap Project
Linkage Disequilibrium
Polymorphism, Single Nucleotide*
Genetic Markers
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