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Genomics Inform > Volume 5(4); 2007 > Article
Characterization of Single Nucleotide Polymorphisms in 55 Disease-Associated Genes in a Korean Population.
Seung Ku Lee, Hyoun Geun Kim, Jason J Kang, Wonil Oh, Bermseok Oh, Kyu Bum Kwack
1Medical Genomics Lab, CHA Research Institute, Pochon CHA University, Seongnam, Gyeonggi 463-836, Korea. kbkwack@cha.ac.kr; kbkwack@gmail.com
2Macrogen, Inc., Seoul 153-781, Korea.
3Medipost, Co., Seoul 137-874, Korea.
4Center for Genome Science, NIH, KCDC, Seoul 122-701, Korea.
Abstract
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.
Keywords: disease-associated gene; single nucleotide polymorphism (SNP); haplotype; linkage disequilibrium; Korean


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