Genomics & Informatics

Korea Genome Organization (한국유전체학회)
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Genetic Variants of IL-13 and IL-4 in the Korean Population: Polymorphisms, Haplotypes and Linkage Disequilibrium

  • Ryu, Ha-Jung (National Genome Research Institute, National Institute of Health) ;
  • Jung, Ho-Youl (National Genome Research Institute, National Institute of Health) ;
  • Park, Jung-Sun (National Genome Research Institute, National Institute of Health) ;
  • Kim, Jun-Woo (National Genome Research Institute, National Institute of Health) ;
  • Kim, Hyung-Tae (Macrogen Co. World Meridian Venture Center) ;
  • Park, Choon-Sik (Genome Research Center for Allergy and Respiratory Diseases, Soonchunhyang University Hospital) ;
  • Han, Bok-Ghee (National Genome Research Institute, National Institute of Health) ;
  • Koh, In-Song (National Genome Research Institute, National Institute of Health) ;
  • Park, Chan (National Genome Research Institute, National Institute of Health) ;
  • Kimm, Ku-Chan (National Genome Research Institute, National Institute of Health) ;
  • Oh, Berm-Seok (National Genome Research Institute, National Institute of Health) ;
  • Lee, Jong-Keuk (National Genome Research Institute, National Institute of Health)
  • Published : 2005.12.01
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Abstract

Asthma is an inflammatory airways disease characterized by bronchial hyperresponsiveness and airways obstruction, which results from a complex interaction of genetic and environmental factors. Interleukin (IL)-13 and IL-4 are important in IgE synthesis and allergic inflammation, therefore genes encoding IL-13 and IL-4 are candidates for predisposition to asthma. In the present study, we screened single-nucleotide polymorphisms (SNPs) in IL-13 and IL-4 and examined whether they are risk factors for asthma. We resequenced all exons and the promoter region in 12 asthma patients and 12 normal controls, and identified 18 SNPs including 2 novel SNPs. The linkage disequilibrium(LD) pattern was evaluated with 16 common SNPs, and haplotypes were also estimated within the block. Although IL-13 and IL-4 are localized within 27 kb on chromosome 5q31 and share many biological profiles, this region was partitioned into 2 blocks. One SNP and three SNPs were determined as haplotype-taggingSNPs (htSNPs) within IL-13 and IL-4 haplotype-block, respectively. No significant associations were observed between any of the SNPs or haplotypes and development of asthma in small number of Korean subjects. However, the genetic variants of IL-13 and IL-4 would provide valuable strategies for the genotyping studies in large population.

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